All Phenotypes Fgfr3<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Fgfr3⁺
wild type
MGI:2430656

Summary

27 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Fgfr3^tm1.1Aomw/Fgfr3⁺	129S6.129P2-Fgfr3^tm1.1Aomw	MGI:3831378
ht2	Fgfr3^tm1.1Aomw/Fgfr3⁺	B6.129P2-Fgfr3^tm1.1Aomw	MGI:3831373
ht3	Fgfr3^tm1.1Aomw/Fgfr3⁺	C.129P2-Fgfr3^tm1.1Aomw	MGI:3831368
ht4	Fgfr3^tm1.1Aomw/Fgfr3⁺	CBACa.129P2-Fgfr3^tm1.1Aomw	MGI:3831376
ht5	Fgfr3^{tm1.1(FGFR3*)Ytc}/Fgfr3⁺	involves: 129	MGI:6416462
ht6	Fgfr3^tm1Aomw/Fgfr3⁺	involves: 129P2/OlaHsd	MGI:3831366
ht7	Fgfr3^tm2Wei/Fgfr3⁺	involves: 129S1/Sv * 129X1/SvJ * MF1	MGI:3639744
ht8	Fgfr3^tm1Llm/Fgfr3⁺	involves: 129S2/SvPas	MGI:5551435
ht9	Fgfr3^tm1Llm/Fgfr3⁺	involves: 129S2/SvPas * C57BL/6J	MGI:3840080
ht10	Fgfr3^tm5.1Cxd/Fgfr3⁺	involves: 129S6/SvEvTac	MGI:3640358
ht11	Fgfr3^tm3.1Cxd/Fgfr3⁺	involves: 129S6/SvEvTac	MGI:3640343
ht12	Fgfr3^tm4.1Cxd/Fgfr3⁺	involves: 129S6/SvEvTac	MGI:3640211
ht13	Fgfr3^tm1.1Iwa/Fgfr3⁺	involves: 129S6/SvEvTac * FVB/N * NIH Black Swiss	MGI:3640198
ht14	Fgfr3^tm1Cxd/Fgfr3⁺	involves: 129S6/SvEvTac * NIH Black Swiss	MGI:3586595
ht15	Fgfr3^tm4.1Cxd/Fgfr3⁺	involves: 129S6/SvEvTac * NIH Black Swiss	MGI:3640318
ht16	Fgfr3^tm3.1Llm/Fgfr3⁺	involves: C57BL/6N	MGI:7517089
cn17	Fgfr3^tm2Llm/Fgfr3⁺ Tg(Col1a1-cre)1Kry/0	involves: 129S2/SvPas * C57BL/6 * FVB	MGI:5426514
cn18	Fgfr3^tm2Llm/Fgfr3⁺ Tg(CMV-cre)1Ipc/?	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:5426512
cn19	Fgfr3^tm2Llm/Fgfr3⁺ Tg(Col2a1-cre)1Bhr/?	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:5426513
cn20	Fgfr3^tm4Cxd/Fgfr3⁺ Kras^tm4Tyj/Kras⁺ Tg(Upk2-cre)6Xrw/0	involves: 129S4/SvJae * 129S6/SvEvTac * FVB/N	MGI:5141739
cn21	Ctnnb1^tm1Mmt/Ctnnb1⁺ Fgfr3^tm4Cxd/Fgfr3⁺ Tg(Upk2-cre)6Xrw/0	involves: 129S6/SvEvTac * 129X1/SvJ * FVB/N	MGI:5141741
cn22	Fgfr3^tm4Cxd/Fgfr3⁺ Tg(Col2a1-cre)1Bhr/0	involves: 129S6/SvEvTac * C57BL/6 * NIH Black Swiss * SJL	MGI:3640323
cn23	Fgfr3^tm4Cxd/Fgfr3⁺ Tg(Upk2-cre)6Xrw/0	involves: 129S6/SvEvTac * FVB/N	MGI:5141738
cn24	Fgfr3^tm1Iwa/Fgfr3⁺ Tg(Upk2-cre)6Xrw/0	involves: 129S6/SvEvTac * FVB/N	MGI:5141737
cx25	Fgf9^tm1Dor/Fgf9⁺ Fgfr3^tm1.1Aomw/Fgfr3⁺	involves: 129 * BALB/c * C57BL/6	MGI:3831412
cx26	Fgf8^tm1Mrc/Fgf8⁺ Fgfr3^tm1.1Aomw/Fgfr3⁺	involves: 129 * BALB/c * C57BL/6	MGI:3831408
cx27	Fgf8^tm1Mrc/Fgf8⁺ Fgf9^tm1Dor/Fgf9⁺ Fgfr3^tm1.1Aomw/Fgfr3⁺	involves: 129 * BALB/c * C57BL/6	MGI:3831411

Allelic Composition	Fgfr3^tm1.1Aomw/Fgfr3⁺
Genetic Background	129S6.129P2-Fgfr3^tm1.1Aomw

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3^tm1.1Aomw mutation (4 available); any Fgfr3 mutation (52 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

craniofacial

abnormal craniofacial morphology ( J:143356 , J:144356 )

• abnormalities are seen in 15% of mice (J:143356)

• only males develop craniofacial abnormalities (J:144356)

• Background Sensitivity: craniofacial abnormalities are more severe on a congenic 129S6/SvEvTac background compared to mice on BALB/c or CBA/Ca congenic backgrounds (J:144356)

abnormal cranium morphology ( J:144356 )

• bones of the skull appear thinner

abnormal sagittal suture morphology ( J:144356 )

• at E18.5 in some mice the size of the sagittal gap between the frontal and parietal bones is increased compared to controls

abnormal neurocranium morphology ( J:144356 )

• apparent increase in the overlap of frontal and parietal bones

thin frontal bone ( J:144356 )

• frontal bone appears to be thinner

small interparietal bone ( J:144356 )

• smaller and less ossified in some mice at E18.5

small occipital bone ( J:144356 )

• the occipital bones are smaller and less ossified in some mice at E18.5

thin parietal bone ( J:144356 )

• parietal bone appears to be thinner

malocclusion ( J:144356 )

• class III (lower teeth anterior in relation to upper teeth) malocclusion seen in most mice

• malocclusion impairs feeding

abnormal maxillary zygomatic process morphology ( J:144356 )

• most mice show fusion of the zygomatic bone to the zygomatic process of the maxilla

abnormal palatine bone horizontal plate morphology ( J:144356 )

• reduced ossification of the palatal shelves is seen in some mice at E18.5

abnormal zygomatic bone morphology ( J:144356 )

• most mice show fusion of the zygomatic bone to the zygomatic process of the maxilla

domed cranium ( J:144356 )

• most have a rounded skull

abnormal snout morphology ( J:144356 )

• most mice have a shortened and often twisted snout

short snout ( J:144356 )

limbs/digits/tail

decreased femur compact bone thickness ( J:144356 )

• decreased compact bone thickness in the proximal femur

hearing/vestibular/ear

abnormal organ of Corti morphology ( J:143356 )

abnormal organ of Corti supporting cell differentiation ( J:143356 )

• at least 2 prospective Deiters' cells adopt a pillar cell fate

abnormal cochlear outer hair cell morphology ( J:143356 )

• 4 outer hair cells are occasionally seen in apical cross sections

• longer stretches containing extra outer hair cells are found in the apical regions compared to wild-type controls

• extra outer hair cells are seen in discontinuous patches in the middle and apical domains

abnormal Deiters cell morphology ( J:143356 )

• three outer hair cells are present but only a single Deiters' cell is seen in basal and mid-basal cochlear sections

abnormal pillar cell morphology ( J:143356 )

• four pillar cells are seen in basal and mid-basal cochlear sections

abnormal patterning of the organ of Corti ( J:143356 )

• longer stretches containing extra outer hair cells are found in the apical regions compared to wild-type controls

• extra outer hair cells are seen in discontinuous patches in the middle and apical domains

increased or absent threshold for auditory brainstem response ( J:143356 )

• increased ABR threshold at all test frequencies

impaired hearing ( J:143356 )

• hearing loss is less severe at 32 kHz than at lower frequencies

• hearing loss is more severe in homozygotes compared to heterozygotes

• Background Sensitivity: hearing loss is more severe in mice on a 129S6/SvEvTac congenic background compared to mice on a congenic CBA/Ca background

skeleton

abnormal cranium morphology ( J:144356 )

• bones of the skull appear thinner

abnormal sagittal suture morphology ( J:144356 )

• at E18.5 in some mice the size of the sagittal gap between the frontal and parietal bones is increased compared to controls

abnormal neurocranium morphology ( J:144356 )

• apparent increase in the overlap of frontal and parietal bones

thin frontal bone ( J:144356 )

• frontal bone appears to be thinner

small interparietal bone ( J:144356 )

• smaller and less ossified in some mice at E18.5

small occipital bone ( J:144356 )

• the occipital bones are smaller and less ossified in some mice at E18.5

thin parietal bone ( J:144356 )

• parietal bone appears to be thinner

malocclusion ( J:144356 )

• class III (lower teeth anterior in relation to upper teeth) malocclusion seen in most mice

• malocclusion impairs feeding

abnormal maxillary zygomatic process morphology ( J:144356 )

• most mice show fusion of the zygomatic bone to the zygomatic process of the maxilla

abnormal palatine bone horizontal plate morphology ( J:144356 )

• reduced ossification of the palatal shelves is seen in some mice at E18.5

abnormal zygomatic bone morphology ( J:144356 )

• most mice show fusion of the zygomatic bone to the zygomatic process of the maxilla

domed cranium ( J:144356 )

• most have a rounded skull

decreased femur compact bone thickness ( J:144356 )

• decreased compact bone thickness in the proximal femur

decreased bone mineral density of femur ( J:144356 )

• decreased bone mineral density in the trabecular bone of the femur head

• mineral density reduction is intermediate between homozygous and wild-type mice

delayed bone ossification ( J:144356 )

• a delay in ossification of the occipital and interparietal bones and of the palatal shelves is seen at E18.5

• by P1 differences in maturation are less apparent

growth/size/body

malocclusion ( J:144356 )

• class III (lower teeth anterior in relation to upper teeth) malocclusion seen in most mice

• malocclusion impairs feeding

abnormal palatine bone horizontal plate morphology ( J:144356 )

• reduced ossification of the palatal shelves is seen in some mice at E18.5

abnormal snout morphology ( J:144356 )

• most mice have a shortened and often twisted snout

short snout ( J:144356 )

decreased body size ( J:144356 )

• mice with skull abnormalities tend to be smaller than their littermates

digestive/alimentary system

abnormal palatine bone horizontal plate morphology ( J:144356 )

• reduced ossification of the palatal shelves is seen in some mice at E18.5

nervous system

abnormal cochlear outer hair cell morphology ( J:143356 )

• 4 outer hair cells are occasionally seen in apical cross sections

• longer stretches containing extra outer hair cells are found in the apical regions compared to wild-type controls

• extra outer hair cells are seen in discontinuous patches in the middle and apical domains

cellular

abnormal organ of Corti supporting cell differentiation ( J:143356 )

• at least 2 prospective Deiters' cells adopt a pillar cell fate

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Muenke Syndrome		DOID:0060703	OMIM:602849	J:144356

Allelic Composition	Fgfr3^tm1.1Aomw/Fgfr3⁺
Genetic Background	B6.129P2-Fgfr3^tm1.1Aomw

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3^tm1.1Aomw mutation (4 available); any Fgfr3 mutation (52 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

craniofacial

abnormal craniofacial morphology ( J:143356 , J:144356 )

• abnormalities are seen in 11% of mice (J:143356)

• only males develop craniofacial abnormalities (J:144356)

• Background Sensitivity: more males on a C57BL/6 congenic background display skull abnormalities compared to males on a congenic 129S6/SvEvTac background (J:144356)

abnormal cranium morphology ( J:144356 )

• a few mice have rounded skulls

• increased skull height is seen in some males that also appear to have an ill-defined calvarial suture

• bones of the skull appear thinner

abnormal cranial suture morphology ( J:144356 )

• some males appear to have an ill-defined calvarial suture suggesting synostosis

abnormal coronal suture morphology ( J:144356 )

• indistinct in some males

abnormal lambdoid suture morphology ( J:144356 )

• indistinct in some males

decreased cranium height ( J:144356 )

• decreased skull length is seen in males that also appear to have an ill-defined calvarial suture

abnormal neurocranium morphology ( J:144356 )

• apparent increase in the overlap of frontal and parietal bones

thin frontal bone ( J:144356 )

• frontal bone appears to be thinner

enlarged interparietal bone ( J:144356 )

• in some males

abnormal occipital bone morphology ( J:144356 )

• displaced caudally and ventrally in some males

abnormal foramen magnum morphology ( J:144356 )

• the foramen magnum is pushed round to the base of the skull in some males

thin parietal bone ( J:144356 )

• parietal bone appears to be thinner

malocclusion ( J:144356 )

• seen in a few mice

abnormal premaxilla morphology ( J:144356 )

• bilateral fusion of the premaxillary suture was seen in one severely affected male

abnormal snout morphology ( J:144356 )

• a few mice have a shortened and often twisted snout

short snout ( J:144356 )

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:143356 )

• increased ABR threshold at all test frequencies except 33 kHz

impaired hearing ( J:143356 )

• hearing loss is less severe at 32 kHz than at lower frequencies

• hearing loss is more severe in homozygotes compared to heterozygotes

• Background Sensitivity: hearing loss is more severe in mice on a C57BL/6 congenic background compared to mice on a congenic CBA/Ca background

skeleton

abnormal cranium morphology ( J:144356 )

• a few mice have rounded skulls

• increased skull height is seen in some males that also appear to have an ill-defined calvarial suture

• bones of the skull appear thinner

abnormal cranial suture morphology ( J:144356 )

• some males appear to have an ill-defined calvarial suture suggesting synostosis

abnormal coronal suture morphology ( J:144356 )

• indistinct in some males

abnormal lambdoid suture morphology ( J:144356 )

• indistinct in some males

decreased cranium height ( J:144356 )

• decreased skull length is seen in males that also appear to have an ill-defined calvarial suture

abnormal neurocranium morphology ( J:144356 )

• apparent increase in the overlap of frontal and parietal bones

thin frontal bone ( J:144356 )

• frontal bone appears to be thinner

enlarged interparietal bone ( J:144356 )

• in some males

abnormal occipital bone morphology ( J:144356 )

• displaced caudally and ventrally in some males

abnormal foramen magnum morphology ( J:144356 )

• the foramen magnum is pushed round to the base of the skull in some males

thin parietal bone ( J:144356 )

• parietal bone appears to be thinner

malocclusion ( J:144356 )

• seen in a few mice

abnormal premaxilla morphology ( J:144356 )

• bilateral fusion of the premaxillary suture was seen in one severely affected male

synostosis ( J:144356 )

• some males appear to have an ill-defined calvarial suture suggesting synostosis

growth/size/body

malocclusion ( J:144356 )

• seen in a few mice

abnormal snout morphology ( J:144356 )

• a few mice have a shortened and often twisted snout

short snout ( J:144356 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Muenke Syndrome		DOID:0060703	OMIM:602849	J:144356

Allelic Composition	Fgfr3^tm1.1Aomw/Fgfr3⁺
Genetic Background	C.129P2-Fgfr3^tm1.1Aomw

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3^tm1.1Aomw mutation (4 available); any Fgfr3 mutation (52 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:143356 )

• increased ABR threshold at all test points

impaired hearing ( J:143356 )

• hearing loss is less severe at 32 kHz than at lower frequencies

• Background Sensitivity: hearing loss is less severe in mice on a BALB/c congenic background compared to mice on a congenic 129S6/SvEvTac or C57BL/6 background

craniofacial

craniofacial phenotype ( J:144356 )

N	• unlike mice on other backgrounds, no skull abnormalities are seen in mice on a congenic BALB/c background

abnormal craniofacial morphology ( J:143356 )

• abnormalities are seen in 5% of mice

Allelic Composition	Fgfr3^tm1.1Aomw/Fgfr3⁺
Genetic Background	CBACa.129P2-Fgfr3^tm1.1Aomw

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3^tm1.1Aomw mutation (4 available); any Fgfr3 mutation (52 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

craniofacial

craniofacial phenotype ( J:143356 , J:144356 )

• no heterozygotes with craniofacial abnormalities were found (J:143356)

• Background Sensitivity: craniofacial abnormalities are less severe on a congenic CBA/Ca background compared to mice on 129S6/SvEvTac background but more severe compared to mice on a BALB/c, congenic background (J:144356)

• only males develop craniofacial abnormalities (J:144356)

abnormal cranium morphology ( J:144356 )

• a few mice have rounded skulls

malocclusion ( J:144356 )

• seen in a few mice

abnormal snout morphology ( J:144356 )

• a few mice have a shortened and often twisted snout

short snout ( J:144356 )

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:143356 )

• increased ABR threshold at all test frequencies except 33 kHz

impaired hearing ( J:143356 )

• hearing loss is more severe in homozygotes compared to heterozygotes

• hearing loss is less severe at 32 kHz than at lower frequencies

• Background Sensitivity: hearing loss is less severe in mice on a CBA/Ca congenic background compared to mice on a congenic 129S6/SvEvTac or C57BL/6 background

skeleton

abnormal cranium morphology ( J:144356 )

• a few mice have rounded skulls

malocclusion ( J:144356 )

• seen in a few mice

growth/size/body

malocclusion ( J:144356 )

• seen in a few mice

abnormal snout morphology ( J:144356 )

• a few mice have a shortened and often twisted snout

short snout ( J:144356 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Muenke Syndrome		DOID:0060703	OMIM:602849	J:144356

Allelic Composition	Fgfr3^{tm1.1(FGFR3*)Ytc}/Fgfr3⁺
Genetic Background	involves: 129

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3^{tm1.1(FGFR3*)Ytc} mutation (0 available); any Fgfr3 mutation (52 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:287271 )

• majority of mice die at around 1 year of age

growth/size/body

misaligned incisors ( J:287271 )

• protrusion of the lower incisors because of changes in the skull

midface hypoplasia ( J:287271 )

short snout ( J:287271 )

• short snout is seen at 10 days to 1 month of age

round head ( J:287271 )

• rounded head is seen at 10 days to 1 month of age

decreased body weight ( J:287271 )

decreased body length ( J:287271 )

• 7.1% shortening of body length at 1 month of age

disproportionate dwarf ( J:287271 )

• dwarfism phenotypes become gradually evident in mice; limbs are disproportionately shortened relative to body length

skeleton

decreased chondrocyte proliferation ( J:287271 )

• primary chondrocytes show lower proliferation rates

abnormal cranium morphology ( J:287271 )

• skull is rounded in newborns

absent jugum limitans ( J:287271 )

• the jugum limitans, the cranial suture that separates the frontal and nasal bones, is absent

abnormal neurocranium morphology ( J:287271 )

• calvarial bones are distorted due to a positional shift and compression of the frontal and parietal bones

misaligned incisors ( J:287271 )

• protrusion of the lower incisors because of changes in the skull

domed cranium ( J:287271 )

decreased osteoclast cell number ( J:287271 )

• fewer osteoclasts in femurs at 1 year of age

bowed femur ( J:287271 )

short femur ( J:287271 )

• femur length is reduced 15% in newborns

• 22% shortening of femur length at 1 month of age

increased diameter of femur ( J:287271 )

• femurs are thick

abnormal long bone diaphysis morphology ( J:287271 )

• femurs show widened diaphysis

abnormal long bone epiphyseal plate morphology ( J:287271 )

• reduction in the number of proliferative chondrocytes

• arrangement of chondrocyte columns is disturbed with an increased amount of space between the columns at 4 and 8 weeks of age

• however, the arrangement of chondrocyte columns in the growth plate remains normal before 2 weeks of age and -however, epiphyseal structure is normal at birth

abnormal long bone epiphyseal plate proliferative zone ( J:287271 )

• growth plates are shorter, with a shorter proliferative zone at 2, 4, and 8 weeks of age

abnormal long bone hypertrophic chondrocyte zone ( J:287271 )

• osteocalcin expression which is associated with early stages of matrix ossification is increased in chondrocytes of the hypertrophic zone of the distal femur at 2 weeks of age

decreased width of hypertrophic chondrocyte zone ( J:287271 )

• reduction in hypertrophic zone at 8 weeks of age

decreased long bone epiphyseal plate size ( J:287271 )

abnormal long bone metaphysis morphology ( J:287271 )

• femurs show flared metphyses

• distal femoral metaphysis shows lower bone volume

• reduction in the growth of the longitudinal trabecular bone in the distal femoral metaphysis is seen at several postnatal development stages

abnormal thoracic cage morphology ( J:287271 )

• narrower rib cage

abnormal vertebral column morphology ( J:287271 )

• shorter intervertebral distance between cervical vertebrae

kyphosis ( J:287271 )

• about 90% of mice develop kyphosis before 1 month of age

• severe curvature of the cervical and upper thoracic vertebrae, with almost completely folded upper thoracic vertebrae

decreased bone mineral density ( J:287271 )

• low bone density at birth, in adolescent and adult

decreased bone volume ( J:287271 )

• distal femoral metaphysis shows lower bone volume

decreased trabecular bone volume ( J:287271 )

• trabecular bone volume is decreased in distal femur metaphysis at birth and 1 year of age

decreased osteoblast cell number ( J:287271 )

• fewer osteoblasts in femurs at 1 year of age

decreased bone trabecula number ( J:287271 )

• trabecular number is decreased in distal femur metaphysis at birth and 1 year of age

increased bone trabecular spacing ( J:287271 )

• trabecular separation is increased in distal femur metaphysis at birth and 1 year of age

decreased trabecular bone thickness ( J:287271 )

• trabecular thickness is decreased in distal femur metaphysis at birth and 1 year of age

abnormal bone ossification ( J:287271 )

• bone-forming process is disturbed

• the fewer osteoblasts and osteoclasts in femurs suggests that bone turnover rate is altered

premature craniofacial suture closure ( J:287271 )

• newborns show premature suture closure

premature metopic suture closure ( J:287271 )

• the metopic sutures are unilaterally fused or partially absent

delayed bone ossification ( J:287271 )

• formation of the secondary ossification center is delayed

craniofacial

abnormal cranium morphology ( J:287271 )

• skull is rounded in newborns

absent jugum limitans ( J:287271 )

• the jugum limitans, the cranial suture that separates the frontal and nasal bones, is absent

abnormal neurocranium morphology ( J:287271 )

• calvarial bones are distorted due to a positional shift and compression of the frontal and parietal bones

misaligned incisors ( J:287271 )

• protrusion of the lower incisors because of changes in the skull

domed cranium ( J:287271 )

midface hypoplasia ( J:287271 )

short snout ( J:287271 )

• short snout is seen at 10 days to 1 month of age

round head ( J:287271 )

• rounded head is seen at 10 days to 1 month of age

cellular

decreased chondrocyte proliferation ( J:287271 )

• primary chondrocytes show lower proliferation rates

hematopoietic system

decreased osteoclast cell number ( J:287271 )

• fewer osteoclasts in femurs at 1 year of age

immune system

decreased osteoclast cell number ( J:287271 )

• fewer osteoclasts in femurs at 1 year of age

limbs/digits/tail

bowed femur ( J:287271 )

short femur ( J:287271 )

• femur length is reduced 15% in newborns

• 22% shortening of femur length at 1 month of age

increased diameter of femur ( J:287271 )

• femurs are thick

rhizomelic limb ( J:287271 )

• newborns show proximal limb shortening with relatively normally sized trunks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achondroplasia		DOID:4480	OMIM:100800	J:287271

Allelic Composition	Fgfr3^tm1Aomw/Fgfr3⁺
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3^tm1Aomw mutation (0 available); any Fgfr3 mutation (52 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

normal phenotype

no abnormal phenotype detected ( J:144356 )

• unlike in mice with the floxed neo cassette removed, no gross abnormalities are seen

Allelic Composition	Fgfr3^tm2Wei/Fgfr3⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * MF1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3^tm2Wei mutation (0 available); any Fgfr3 mutation (52 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Anatomical defects of the Fgfr3^tm2Wei/Fgfr3⁺ mouse

growth/size/body

long incisors ( J:54829 )

• overgrowth of incisor teeth

misaligned incisors ( J:54829 )

• incisors do not align properly and protrude because of changes in the skull

malocclusion ( J:54829 )

• abnormal closure of the upper and lower incisors

short nasal bone ( J:54829 )

• extreme shortening of the nasal bone

round head ( J:54829 )

• rounded head is seen as early as 10 days of age

disproportionate dwarf ( J:54829 )

• weight is half or less that of wild-type

• when teeth are shortened to allow normal food intake, the weight still does not exceed 60% of the wild-type

skeleton

abnormal cranium morphology ( J:54829 )

• rounding of the braincase

abnormal foramen magnum morphology ( J:54829 )

• ventral and anterior shift of the interparietal and occipital bones which brings the foramen magnum to the base of the skull

short frontal bone ( J:54829 )

• extreme shortening and distortion of the frontal bone

abnormal parietal bone morphology ( J:54829 )

• distortion of the parietal bones

long incisors ( J:54829 )

• overgrowth of incisor teeth

misaligned incisors ( J:54829 )

• incisors do not align properly and protrude because of changes in the skull

malocclusion ( J:54829 )

• abnormal closure of the upper and lower incisors

abnormal maxilla morphology ( J:54829 )

• distortion of the maxilla

short nasal bone ( J:54829 )

• extreme shortening of the nasal bone

short tibia ( J:54829 )

abnormal long bone epiphyseal plate proliferative zone ( J:54829 )

• proliferative zone is devoid of the characteristic chondrocyte columns

decreased width of hypertrophic chondrocyte zone ( J:54829 )

• hypertrophic zone is considerably reduced or absent

decreased long bone epiphyseal plate size ( J:54829 )

• shortening and disorganization of the growth plate

disorganized long bone epiphyseal plate ( J:54829 )

• shortening and disorganization of the growth plate

kyphosis ( J:54829 )

• show an overt anterior gibbus probably due to the nearly perpendicular angle between the skull and the cervical vertebrae

craniofacial

abnormal cranium morphology ( J:54829 )

• rounding of the braincase

abnormal foramen magnum morphology ( J:54829 )

• ventral and anterior shift of the interparietal and occipital bones which brings the foramen magnum to the base of the skull

short frontal bone ( J:54829 )

• extreme shortening and distortion of the frontal bone

abnormal parietal bone morphology ( J:54829 )

• distortion of the parietal bones

long incisors ( J:54829 )

• overgrowth of incisor teeth

misaligned incisors ( J:54829 )

• incisors do not align properly and protrude because of changes in the skull

malocclusion ( J:54829 )

• abnormal closure of the upper and lower incisors

abnormal maxilla morphology ( J:54829 )

• distortion of the maxilla

short nasal bone ( J:54829 )

• extreme shortening of the nasal bone

round head ( J:54829 )

• rounded head is seen as early as 10 days of age

limbs/digits/tail

short tibia ( J:54829 )

respiratory system

short nasal bone ( J:54829 )

• extreme shortening of the nasal bone

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achondroplasia		DOID:4480	OMIM:100800	J:54829

Allelic Composition	Fgfr3^tm1Llm/Fgfr3⁺
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3^tm1Llm mutation (0 available); any Fgfr3 mutation (52 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

growth/size/body

small snout ( J:203653 )

decreased body weight ( J:203653 )

• weight is 47% that of wild-type mice at 17 days of age

abnormal head size ( J:203653 )

• head anterior-posterior length is 70% of that in wild-type mice at 17 days of age

decreased body length ( J:203653 )

• naso-anal length is 65% of that in wild-type mice at 17 days of age

disproportionate dwarf ( J:203653 )

• disproportionate short stature

• mutants show about 50% of the length of the appendicular skeleton and about 70% of the length of the axial skeleton of those of wild-type mice

• treatment of mice at 7 days of age with the CNP analog, BMN 111, for 10 or 20 days, leads to improvement in dwarfism

craniofacial

foramen magnum stenosis ( J:203653 )

• the lateral diameters of the foramen magnum are about 70% of those of wild-type mice

• foramen magnum stenosis

prognathia ( J:203653 )

• anterior crossbite

domed cranium ( J:203653 )

small snout ( J:203653 )

limbs/digits/tail

short femur ( J:203653 )

• femur lengths are slightly shorter than wild-type at E16.5

• femur lengths are 54% that of wild-type mice at 17 days of age

short tibia ( J:203653 )

• tibia length is 42% of that in wild-type mice at 17 days of age

short tail ( J:203653 )

• tail length is 52% of that in wild-type mice at 17 days of age

skeleton

foramen magnum stenosis ( J:203653 )

• the lateral diameters of the foramen magnum are about 70% of those of wild-type mice

• foramen magnum stenosis

prognathia ( J:203653 )

• anterior crossbite

domed cranium ( J:203653 )

short femur ( J:203653 )

• femur lengths are slightly shorter than wild-type at E16.5

• femur lengths are 54% that of wild-type mice at 17 days of age

short tibia ( J:203653 )

• tibia length is 42% of that in wild-type mice at 17 days of age

abnormal cervical vertebrae morphology ( J:203653 )

• cervical vertebrae abnormalities

short lumbar vertebrae ( J:203653 )

• lumbar vertebrae L4-L6 length is 71% of that in wild-type mice at 17 days of age

vertebral compression ( J:203653 )

• cervico-medullary and upper-spinal-cord compression due to a reduced size of the foramen magnum

abnormal epiphyseal plate morphology ( J:203653 )

• growth-plate abnormalities, including lack of columnar arrangement and abnormal shape and smaller hypertrophic cells

abnormal long bone hypertrophic chondrocyte zone ( J:203653 )

• reduction in prehypertrophic and hypertrophic zones

abnormal endochondral bone ossification ( J:203653 )

• growth deficit affecting both endochondral and membranous ossification

abnormal intramembranous bone ossification ( J:203653 )

• growth deficit affecting both endochondral and membranous ossification

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achondroplasia		DOID:4480	OMIM:100800	J:203653

Allelic Composition	Fgfr3^tm1Llm/Fgfr3⁺
Genetic Background	involves: 129S2/SvPas * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3^tm1Llm mutation (0 available); any Fgfr3 mutation (52 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:147208 )

• mice die 6 to 8 weeks after birth

skeleton

abnormal skeleton morphology ( J:147208 )

• at P0, mice exhibit skeletal dysplasia that worsens with age unlike wild-type mice

abnormal foramen magnum morphology ( J:147208 )

• mice exhibit anterior displacement of the foramen magnum

short basicranium ( J:147208 )

• the skull base is shortened compared to in wild-type mice

decreased cranium height ( J:147208 )

• with a slight increase in left-right and dorsal-ventral axes

abnormal temporal bone morphology ( J:147208 )

• mice exhibit an abnormal temporal bone orientation

• the region of the temporal bone corresponding to the human mastoid is poorly developed with low pneumatization compared to in wild-type mice

prognathia ( J:147208 )

• prognathic mandible

domed cranium ( J:147208 )

abnormal middle ear ossicle morphology ( J:147208 )

• delayed ossification at P14

abnormal incus morphology ( J:147208 )

• delayed ossification

abnormal malleus morphology ( J:147208 )

• at P7, the orbibular apophysis of the malleus is still cartilaginous unlike in wild-type mice

abnormal stapes morphology ( J:147208 )

• delayed ossification

bowed radius ( J:147208 )

• at 3 weeks of age

bowed ulna ( J:147208 )

• at 3 weeks of age

bowed fibula ( J:147208 )

• at 3 weeks of age

bowed tibia ( J:147208 )

• at 3 weeks of age

small caudal vertebrae ( J:147208 )

decreased length of long bones ( J:147208 )

short femur ( J:147208 )

short ribs ( J:147208 )

decreased chondrocyte number ( J:147208 )

• hypertrophic chondrocytes are reduced in number and size compared to in wild-type mice

abnormal epiphyseal plate morphology ( J:147208 )

• disorganized with shortened chondrocyte columns and hypertrophic chondrocytes that are reduced in number and size

hearing/vestibular/ear

abnormal middle ear ossicle morphology ( J:147208 )

• delayed ossification at P14

abnormal incus morphology ( J:147208 )

• delayed ossification

abnormal malleus morphology ( J:147208 )

• at P7, the orbibular apophysis of the malleus is still cartilaginous unlike in wild-type mice

abnormal stapes morphology ( J:147208 )

• delayed ossification

abnormal cochlea morphology ( J:147208 )

• at P0, ossification in the cochlea is severely delayed compared to in wild-type mice

abnormal organ of Corti morphology ( J:147208 )

• the tunnel of the Corti presents a smaller opening than in wild-type mice

abnormal cochlear outer hair cell morphology ( J:147208 )

• the space in between the outer hair cells is broader than in wild-type mice

• the two first rows of outer hair cells are not supported at their basal poles by Dieter's cell but are replaced by a pillar-like structure called modified Dieter's cells

abnormal Deiters cell morphology ( J:147208 )

• mice exhibit two ectopic pillars (modified Deiter's cells) close to the first two outer hair cells in addition to the two normal pillar cells and instead of normally placed Dieter cells

increased or absent threshold for auditory brainstem response ( J:147208 )

• mice display a significantly higher ABR threshold for frequencies between 3 to 50 kHz, with a maximum of 50 dB for the medium range frequencies, and around 30 dB for lower and higher frequencies indicating a mild hearing loss

deafness ( J:147208 )

craniofacial

abnormal foramen magnum morphology ( J:147208 )

• mice exhibit anterior displacement of the foramen magnum

short basicranium ( J:147208 )

• the skull base is shortened compared to in wild-type mice

decreased cranium height ( J:147208 )

• with a slight increase in left-right and dorsal-ventral axes

abnormal temporal bone morphology ( J:147208 )

• mice exhibit an abnormal temporal bone orientation

• the region of the temporal bone corresponding to the human mastoid is poorly developed with low pneumatization compared to in wild-type mice

prognathia ( J:147208 )

• prognathic mandible

domed cranium ( J:147208 )

abnormal middle ear ossicle morphology ( J:147208 )

• delayed ossification at P14

abnormal incus morphology ( J:147208 )

• delayed ossification

abnormal malleus morphology ( J:147208 )

• at P7, the orbibular apophysis of the malleus is still cartilaginous unlike in wild-type mice

abnormal stapes morphology ( J:147208 )

• delayed ossification

midface hypoplasia ( J:147208 )

• the midface is hypoplastic compared to in wild-type mice

growth/size/body

midface hypoplasia ( J:147208 )

• the midface is hypoplastic compared to in wild-type mice

megacephaly ( J:147208 )

decreased body length ( J:147208 )

nervous system

abnormal cochlear outer hair cell morphology ( J:147208 )

• the space in between the outer hair cells is broader than in wild-type mice

• the two first rows of outer hair cells are not supported at their basal poles by Dieter's cell but are replaced by a pillar-like structure called modified Dieter's cells

limbs/digits/tail

bowed radius ( J:147208 )

• at 3 weeks of age

bowed ulna ( J:147208 )

• at 3 weeks of age

short femur ( J:147208 )

bowed fibula ( J:147208 )

• at 3 weeks of age

bowed tibia ( J:147208 )

• at 3 weeks of age

small caudal vertebrae ( J:147208 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
thanatophoric dysplasia		DOID:13481	OMIM:187600 OMIM:187601 OMIM:273680	J:147208

Allelic Composition	Fgfr3^tm5.1Cxd/Fgfr3⁺
Genetic Background	involves: 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3^tm5.1Cxd mutation (0 available); any Fgfr3 mutation (52 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:67780 )

• many mutants die between 1 week and 6 months of age: if overgrown incisors are cut weekly to allow normal eating and drinking, some mutants survive up to 6 months of age

growth/size/body

long incisors ( J:67780 )

• exhibit longer incisors

disproportionate dwarf ( J:67780 )

• severe dwarfism

skeleton

abnormal cranium morphology ( J:67780 )

short basicranium ( J:67780 )

• shorter cranial base due to premature fusion and ossification of synochondroses

decreased cranium height ( J:67780 )

• skulls are reduced in size along the anteroposterior axis

increased cranium width ( J:67780 )

• skulls are slightly larger along the left-right and dorsal-ventral axes

long incisors ( J:67780 )

• exhibit longer incisors

domed cranium ( J:67780 )

• skulls become progressively more dome-shaped as mice age

bowed fibula ( J:67780 )

• some exhibit bowed fibulas

bowed tibia ( J:67780 )

• some exhibit bowed tibias

abnormal long bone epiphyseal plate morphology ( J:67780 )

• chondrocyte columns are markedly shorter

• chondrocytes in the maturing zone sometimes mingle with those in the hypertrophic zone in younger mice

• prehypertrophic chondrocyte-like cells are often seen in resting or proliferating zones

abnormal long bone epiphyseal plate proliferative zone ( J:67780 )

• fewer proliferating chondrocytes at P30

abnormal long bone hypertrophic chondrocyte zone ( J:67780 )

• hypertrophic chondrocytes are reduced in number at ages between E17.5 and P45

• less well differentiated small spherical chondrocytes, some of which are directly opposed to the ossification front, invade the hypertrophic zone

decreased width of hypertrophic chondrocyte zone ( J:67780 )

decreased long bone epiphyseal plate size ( J:67780 )

• growth plates of P30 or older mutants are narrower with fewer proliferating and hypertrophic chondrocytes

disorganized long bone epiphyseal plate ( J:67780 )

• growth plates are disorganized by E17.5 and show no clear boundaries between zones

decreased length of long bones ( J:67780 )

• reduction in length of long bones

short femur ( J:67780 )

abnormal chondrocyte morphology ( J:67780 )

• exhibit reduced chondrocyte proliferation

abnormal chondrocyte differentiation ( J:67780 )

• exhibit reduced chondrocyte differentiation

premature endochondral bone ossification ( J:67780 )

• premature ossification of synochondroses

premature cranial synchondrosis closure ( J:67780 )

• synochondroses fuse prematurely and ossify, resulting in shorter cranial base

reproductive system

reduced female fertility ( J:67780 )

• 2 of 10 females mated with males produced one litter of offspring but they failed to produce subsequent litters, however no abnormalities are seen in the ovaries

male infertility ( J:67780 )

• males are infertile although no apparent abnormalities are observed in the testes

craniofacial

abnormal cranium morphology ( J:67780 )

short basicranium ( J:67780 )

• shorter cranial base due to premature fusion and ossification of synochondroses

premature cranial synchondrosis closure ( J:67780 )

• synochondroses fuse prematurely and ossify, resulting in shorter cranial base

decreased cranium height ( J:67780 )

• skulls are reduced in size along the anteroposterior axis

increased cranium width ( J:67780 )

• skulls are slightly larger along the left-right and dorsal-ventral axes

long incisors ( J:67780 )

• exhibit longer incisors

domed cranium ( J:67780 )

• skulls become progressively more dome-shaped as mice age

limbs/digits/tail

short femur ( J:67780 )

bowed fibula ( J:67780 )

• some exhibit bowed fibulas

bowed tibia ( J:67780 )

• some exhibit bowed tibias

short tail ( J:67780 )

• short tail bones

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
achondroplasia	DOID:4480	OMIM:100800	J:67780
thanatophoric dysplasia	DOID:13481	OMIM:187600 OMIM:187601 OMIM:273680	J:67780

Allelic Composition	Fgfr3^tm3.1Cxd/Fgfr3⁺
Genetic Background	involves: 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3^tm3.1Cxd mutation (0 available); any Fgfr3 mutation (52 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Smaller body size, dome-shaped heads and reduced bone density in Fgfr3^tm3.1Cxd/Fgfr3^tm3.1Cxd and Fgfr3^tm3.1Cxd/Fgfr3⁺ mice

growth/size/body

megacephaly ( J:69849 )

• less affected than in homozyogtes

disproportionate dwarf ( J:69849 )

• less affected than in homozygotes

skeleton

abnormal cranium morphology ( J:69849 )

decreased cranium height ( J:69849 )

• skulls are reduced in size along the anterior-posterior axis

increased cranium width ( J:69849 )

• skulls are increased in size along the left-right and dorsal-ventral axes

domed cranium ( J:69849 )

• less affected than in homozyogtes

abnormal long bone epiphyseal plate morphology ( J:69849 )

• exhibit an intermediate phenotype between wild-type and homozygous mutants, with some expansion of the resting zone and some reduction in the maturation and hypertrophic zones

abnormal synchondrosis ( J:69849 )

• synchondrosis exhibit an intermediate phenotype between wild-type and homozygotes (thinner than wild-type) at P6

craniofacial

abnormal cranium morphology ( J:69849 )

decreased cranium height ( J:69849 )

• skulls are reduced in size along the anterior-posterior axis

increased cranium width ( J:69849 )

• skulls are increased in size along the left-right and dorsal-ventral axes

domed cranium ( J:69849 )

• less affected than in homozyogtes

limbs/digits/tail

short tail ( J:69849 )

• less affected than in homozyogtes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achondroplasia		DOID:4480	OMIM:100800	J:69849

Allelic Composition	Fgfr3^tm4.1Cxd/Fgfr3⁺
Genetic Background	involves: 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3^tm4.1Cxd mutation (0 available); any Fgfr3 mutation (52 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

perinatal lethality, complete penetrance ( J:70061 )

• lethality at birth

craniofacial

round head ( J:70061 )

• round head

limbs/digits/tail

bowed ulna ( J:70061 )

• marked bowing of the ulna

bowed tibia ( J:70061 )

• marked bowing of the tibia

short limbs ( J:70061 )

• shorter limbs with particularly shortened ossified zone

skeleton

bowed ulna ( J:70061 )

• marked bowing of the ulna

bowed tibia ( J:70061 )

• marked bowing of the tibia

increased diameter of long bones ( J:70061 )

• widening of limb long bones

abnormal spine curvature ( J:70061 )

• exhibit curvature of the axial skeleton

growth/size/body

round head ( J:70061 )

• round head

Allelic Composition	Fgfr3^tm1.1Iwa/Fgfr3⁺
Genetic Background	involves: 129S6/SvEvTac * FVB/N * NIH Black Swiss

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3^tm1.1Iwa mutation (0 available); any Fgfr3 mutation (52 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cellular

abnormal chondrocyte proliferation ( J:70061 )

• exhibit abnormal chondrocyte proliferation, with increased proliferation during embryo development but decreased proliferation in the postnatal growth plate chondrocytes

mortality/aging

premature death ( J:70061 )

• one set of mutants (52%) that are very small, die 4 weeks after birth

• 24% of mildly affected mutants live longer than 3 months, including some up to as long as wild-type

• Background Sensitivity: on a CD background, about 46% that are severely affected die early while 14% live longer than 3 months

growth/size/body

malocclusion ( J:70061 )

• seen in severely affected mice, although some several severely affected mice die without malocclusion

round head ( J:70061 )

• distinguishable at birth by a mildly round head

disproportionate dwarf ( J:70061 )

• those that die 4 weeks after birth are very small

craniofacial

increased hyoid bone size ( J:70061 )

• enlarged hyoid bone

malocclusion ( J:70061 )

• seen in severely affected mice, although some several severely affected mice die without malocclusion

round head ( J:70061 )

• distinguishable at birth by a mildly round head

limbs/digits/tail

short limbs ( J:70061 )

• shorter limbs with particularly shortened ossified zone

skeleton

abnormal chondrocyte proliferation ( J:70061 )

• exhibit abnormal chondrocyte proliferation, with increased proliferation during embryo development but decreased proliferation in the postnatal growth plate chondrocytes

increased hyoid bone size ( J:70061 )

• enlarged hyoid bone

malocclusion ( J:70061 )

• seen in severely affected mice, although some several severely affected mice die without malocclusion

decreased length of long bones ( J:70061 )

• wider and shorter limb long bones

abnormal costal cartilage morphology ( J:70061 )

• thickening and slight bifurcation of the costal cartilage is seen at P1 and at 15 months of age

• at 15 months of age, observe clonal proliferation of chondrocytes in costal cartilage

• thinner layer of perichondrium in costal cartilage

small thoracic cage ( J:70061 )

• smaller rib cage is evident after P4

abnormal spine curvature ( J:70061 )

• exhibit curvature of the axial skeleton

abnormal chondrocyte morphology ( J:70061 )

• chondrocytes in the medial part of the femur are smaller and premature at E15.5

• chondrocytes around the blood vessel in epiphysis are smaller at P4

abnormal chondrocyte differentiation ( J:70061 )

• decrease in chondrocyte differentiation

abnormal hyaline cartilage morphology ( J:70061 )

• overgrowth of hyaline cartilage, including the trachea and the nasal septa and hypertrophy of the thyroid, cricoid, and tracheal cartilages

abnormal epiphyseal plate morphology ( J:70061 )

• growth plates at the junctions of the rib-bone and the costal cartilage at P17 are abnormal

abnormal long bone epiphyseal plate morphology ( J:70061 )

• exhibit ingrowth of mesenchymal tissue across the physis at P17

• some undifferentiated chondrocytes intermingle with the hypertrophic chondrocytes at E15.5

• thicker growth plate with shorter hypertrophic zones and proliferating columns at P17

abnormal long bone epiphyseal plate proliferative zone ( J:70061 )

• chondrocytes have shorter columnar structures of the proliferating zone

abnormal long bone hypertrophic chondrocyte zone ( J:70061 )

• hypertrophic chondrocytes are sparse and not fully mature

abnormal sternum ossification ( J:70061 )

• delay in sternabrae ossification at P1

delayed bone ossification ( J:70061 )

• delay formation of the secondary ossification center

• delay in sternabrae ossification at P1

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant disease		DOID:0050736		J:70061

Allelic Composition	Fgfr3^tm1Cxd/Fgfr3⁺
Genetic Background	involves: 129S6/SvEvTac * NIH Black Swiss

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3^tm1Cxd mutation (0 available); any Fgfr3 mutation (52 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

growth/size/body

decreased body size ( J:52438 )

decreased body weight ( J:52438 )

• about 90% of controls

limbs/digits/tail

short tail ( J:52438 )

• intermediate length between wild-type and homozygous mutant mice

Allelic Composition	Fgfr3^tm4.1Cxd/Fgfr3⁺
Genetic Background	involves: 129S6/SvEvTac * NIH Black Swiss

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3^tm4.1Cxd mutation (0 available); any Fgfr3 mutation (52 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

mortality/aging ( J:70061 )

N	• Background Sensitivity: compared to offspring of heterozygotes backcrossed to Black Swiss, crosses of male mutants to female CD-1 mice result in <10% survival to 3 months of severely affected mutants

neonatal lethality, complete penetrance ( J:63198 )

• die within a few hours to 1 day after birth

skeleton

increased chondrocyte proliferation ( J:63198 )

• chondrocyte proliferation in growth plates is twice that of wild-type at E15.5, however little difference is seen at E18.5

abnormal osteoblast physiology ( J:63198 )

• exhibit increased osteoblast activity at E15.5 and E18.5

abnormal long bone morphology ( J:63198 )

• long bone abnormalities are seen as early as E14, with increased long bone diameter at E14-15 and shorter bones later

abnormal ulna morphology ( J:63198 )

bowed ulna ( J:63198 )

• exhibit marked bowing of the ulna

abnormal long bone diaphysis morphology ( J:63198 )

• ossified region of the diaphysis is shortened at P1

abnormal long bone epiphyseal plate morphology ( J:63198 )

• differentiation of growth plate chondrocytes is suppressed starting at early embryonic stages

• resting chondrocyte-like cells with small and round appearance are randomly located in the proliferation and hypertrophic zones

• the medial portion of growth plates curve toward the diaphysis into primary spongiosa at E15.5 and P1

• exhibit thick and extended perichondrium in P1 growth plates

• 15-20% increase in the number of cells in growth plates at E14-15

abnormal long bone epiphyseal plate proliferative zone ( J:63198 )

• very short or no stacked-cell columnar organization of proliferating chondrocytes at P1

• chondrocytes in the resting and proliferating zones are smaller and have a tightly packed appearance at E14-15

abnormal long bone hypertrophic chondrocyte zone ( J:63198 )

• hypertrophic chondrocytes show incomplete maturation without full enlargement at E14-15

decreased length of long bones ( J:63198 )

short humerus ( J:63198 )

• length of humerus is 77% of wild-type

short ulna ( J:63198 )

• length of ulna is 80% of wild-type

short femur ( J:63198 )

• length of femur is 88% of wild-type

short tibia ( J:63198 )

• length of tibia is 77% of wild-type

• exhibit marked bowing of the tibia

increased diameter of long bones ( J:63198 )

wide sternum ( J:63198 )

• widening of the sterni

abnormal costal cartilage morphology ( J:63198 )

• costal cartilage is widened and shows chondrocytes that are tightly packed

• proliferation in costal cartilage is increased 258% compared to wild-type at E18.5

abnormal thoracic cage shape ( J:63198 )

• caudal widening

small thoracic cage ( J:63198 )

• small rib cage that shows caudal widening

abnormal spine curvature ( J:63198 )

• exhibit curvature of the axial skeleton

abnormal chondrocyte differentiation ( J:63198 )

• chondrocyte differentiation from the resting to proliferating, and to hypertrophic states, is suppressed

abnormal bone ossification ( J:63198 )

• exhibit decreased ossification in the spine, ribs and epiphyses of the long bones

failure of sternum ossification ( J:63198 )

• no ossification of sternebrae seen at P1

respiratory system

impaired lung alveolus development ( J:63198 )

• lungs at E18.5 or earlier are normal, however after birth, the alveoli are not completely formed

cellular

increased chondrocyte proliferation ( J:63198 )

• chondrocyte proliferation in growth plates is twice that of wild-type at E15.5, however little difference is seen at E18.5

increased fibroblast proliferation ( J:63198 )

• MEFs from E14.5 embryos show increased proliferation

abnormal osteoblast physiology ( J:63198 )

• exhibit increased osteoblast activity at E15.5 and E18.5

limbs/digits/tail

short humerus ( J:63198 )

• length of humerus is 77% of wild-type

abnormal ulna morphology ( J:63198 )

bowed ulna ( J:63198 )

• exhibit marked bowing of the ulna

short ulna ( J:63198 )

• length of ulna is 80% of wild-type

short femur ( J:63198 )

• length of femur is 88% of wild-type

short tibia ( J:63198 )

• length of tibia is 77% of wild-type

• exhibit marked bowing of the tibia

short limbs ( J:63198 )

growth/size/body

round head ( J:63198 )

• round head

craniofacial

round head ( J:63198 )

• round head

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
thanatophoric dysplasia		DOID:13481	OMIM:187600 OMIM:187601 OMIM:273680	J:63198

Allelic Composition	Fgfr3^tm3.1Llm/Fgfr3⁺
Genetic Background	involves: C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3^tm3.1Llm mutation (0 available); any Fgfr3 mutation (52 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

growth/size/body

decreased body size ( J:338859 )

• mice exhibit a progressive dwarfism from birth and throughout adulthood

decreased body weight ( J:338859 )

• body weight is decreased, with a 35% reduction in weight at P60

decreased body length ( J:338859 )

• naso-anal length is similar to control on P7 but is reduced by 12% on P21, 14% on P60, and 9% on P180

craniofacial

abnormal cranium morphology ( J:338859 )

• mice exhibit abnormal skull morphology on P14

• mice show a more globular skull shape, with increased width and reduced length

abnormal foramen magnum morphology ( J:338859 )

• foramen magnum shape is abnormal and the foramen magnum area is decreased by 19%

short basicranium ( J:338859 )

• skull base length is decreased by 21%

premature cranial synchondrosis closure ( J:338859 )

• sphenooccipital synchondroses and intrasphenoidal synchondrosis fusion and partial fusion of the intra-occipital synchondroses on P14, whereas synchondroses are patent in controls

premature sphenooccipital synchondrosis closure ( J:338859 )

• spheno-occipital synchondroses are seen at P14, whereas synchondroses are patent in controls

decreased cranium length ( J:338859 )

increased cranium width ( J:338859 )

prognathia ( J:338859 )

• the mandible is prognathic

• the intercondylar and intergonial distances are relatively wide compared with controls

domed cranium ( J:338859 )

• mice exhibit a dome-shaped skull, with reduced length, increased width, and decreased centroid size

skeleton

abnormal skeleton morphology ( J:338859 )

• progressive skeletal phenotype from P7 until P180

abnormal cranium morphology ( J:338859 )

• mice exhibit abnormal skull morphology on P14

• mice show a more globular skull shape, with increased width and reduced length

abnormal foramen magnum morphology ( J:338859 )

• foramen magnum shape is abnormal and the foramen magnum area is decreased by 19%

short basicranium ( J:338859 )

• skull base length is decreased by 21%

premature cranial synchondrosis closure ( J:338859 )

• sphenooccipital synchondroses and intrasphenoidal synchondrosis fusion and partial fusion of the intra-occipital synchondroses on P14, whereas synchondroses are patent in controls

premature sphenooccipital synchondrosis closure ( J:338859 )

• spheno-occipital synchondroses are seen at P14, whereas synchondroses are patent in controls

decreased cranium length ( J:338859 )

increased cranium width ( J:338859 )

prognathia ( J:338859 )

• the mandible is prognathic

• the intercondylar and intergonial distances are relatively wide compared with controls

domed cranium ( J:338859 )

• mice exhibit a dome-shaped skull, with reduced length, increased width, and decreased centroid size

abnormal long bone epiphyseal ossification zone morphology ( J:338859 )

• the growth plate shows delayed secondary ossification enter formation at P14

• 43% reduction in secondary ossification center volume per epiphyseal volume at P14

decreased width of hypertrophic chondrocyte zone ( J:338859 )

• hypertrophic zone width is reduced at P14 and P21, with smaller hypertrophic chondrocytes due to a lack of cell swelling

• however, chondrocyte proliferation does not differ at P14 or P21

disorganized long bone epiphyseal plate ( J:338859 )

• while no obvious difference in epiphyseal growth plate structures of the femur is seen at P7, progressive disorganization of the growth plate is seen at P14 and P21, characterized by reduced hypertrophic zone width and delayed secondary ossification center formation at P14

decreased length of long bones ( J:338859 )

• length of long bones is reduced across all analyzed time points, with the largest difference at P60

short femur ( J:338859 )

• reduction in femur length at birth

short tibia ( J:338859 )

• reduction in tibia length at birth

abnormal annulus fibrosus morphology ( J:338859 )

• L5-L6 vertebrae show intervertebral disc deformation with reversed herniation of the inner annulus fibrosus into the nucleus pulposus region

abnormal vertebrae morphology ( J:338859 )

• mice exhibit reduced vertebral bone mass and strength

abnormal vertebral body morphology ( J:338859 )

• 12% reduction in vertebral body length, 8% reduction in interpedicular distance and 14% reduction in the canal area of the fifth lumbar in 10-week-old male mice

short vertebral body ( J:338859 )

• 12% reduction in length of the fifth lumbar vertebral body in 10-week-old mice

decreased bone mineral density of vertebrae ( J:338859 )

• 7% reduction in bone mineral density of vertebrae

decreased bone volume ( J:338859 )

• 18% reduction in bone volume per tissue volume of vertebrae

• femurs and tibiae show a 30-42% and 24-38% reduction, respectively, in bone volume to tissue volume ratio at P42, P70, and P180

abnormal compact bone morphology ( J:338859 )

• femurs and tibiae show a decrease in total cortical diameter at P42, P70, and P180

• femoral bone shows a 6-10% increase in cortical bone mineral density at P42, P70, and P180

• -tibiae shows a 6% increase in cortical bone mineral density only at P180

increased compact bone volume ( J:338859 )

• femurs and tibiae show an increase in cortical bone volume to tissue volume at P180

abnormal compact bone lamellar structure ( J:338859 )

• femur mid-shaft cortical bone from P180 males shows a 40% decrease in cortical microporosity, 29% decrease in lacunae number per bone volume and 16% decrease in median lacunae volume

• femur mid-shaft cortical bone from P180 males shows a higher percentage of small lacunae and a lower percentage of large lacunae and increased lacuna shape sphericity

increased compact bone thickness ( J:338859 )

• femurs and tibiae show an increase in the ratio of the cortical thickness to the total diameter on P180

abnormal trabecular bone morphology ( J:338859 )

• femurs show a 4% decrease in trabecular bone mineral density on P70

decreased bone trabecula number ( J:338859 )

• femurs show a 10-17% decrease in trabecular number at P42, P70, and P180

• tibiae show a similar decrease in trabecular number as femurs at P70 and P180, but not at P42

increased bone trabecular spacing ( J:338859 )

• femurs show a 12-28% increase in trabecular space at P42, P70, and P180

• tibiae show a similar increase in trabecular space as femurs at P70 and P180, but not at P42

decreased trabecular bone thickness ( J:338859 )

• 15% decrease in trabecular thickness of vertebrae

• femurs and tibiae show a 13-17% and 7-15% decrease, respectively, in trabecular thickness at P70 and P180

abnormal chondrocyte differentiation ( J:338859 )

• marker analysis indicates impaired chondrocyte differentiation in the growth plate

abnormal endochondral bone ossification ( J:338859 )

• mice exhibit abnormal endochondral ossification that results in premature fusion of the skull synchondroses, leading to multiple craniofacial anomalies

decreased bone stiffness ( J:338859 )

• long bones show 37-53% reduced stiffness at P42, P70, and P180 in 3-point bend testing

decreased vertebra stiffness ( J:338859 )

• lumbar vertebrae show a 34% decrease in stiffness

decreased bone strength ( J:338859 )

• long bones show reduced strength

• long bones show 21% reduced plastic work to total work at P180

decreased femur maximal load ( J:338859 )

• long bones show 24-37% reduced maximal load at P42, P70, and P180 in 3-point bend testing

decreased femur yield load ( J:338859 )

• long bones show 18-28% reduced yield load at P42, P70, and P180 in 3-point bend testing

decreased vertebra maximal load ( J:338859 )

• lumbar vertebrae show a 22% reduction in maximal load

decreased energy dissipated prior to femur fracture ( J:338859 )

• long bones show 37% reduced toughness (energy dissipated at fracture) at P180

fragile skeleton ( J:338859 )

• in older mice, the increased cortical thickness and mineralization results in reduced toughness and a brittle phenotype

limbs/digits/tail

short femur ( J:338859 )

• reduction in femur length at birth

short tibia ( J:338859 )

• reduction in tibia length at birth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypochondroplasia		DOID:0080041	OMIM:146000	J:338859

Allelic Composition	Fgfr3^tm2Llm/Fgfr3⁺ Tg(Col1a1-cre)1Kry/0
Genetic Background	involves: 129S2/SvPas * C57BL/6 * FVB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3^tm2Llm mutation (0 available); any Fgfr3 mutation (52 available)
Tg(Col1a1-cre)1Kry mutation (2 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

skeleton

skeleton phenotype ( J:183772 )

N	• no obvious skeletal phenotype • normal growth plates • primary spongiosa is normal • normal trabecular bone

Allelic Composition	Fgfr3^tm2Llm/Fgfr3⁺ Tg(CMV-cre)1Ipc/?
Genetic Background	involves: 129S2/SvPas * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3^tm2Llm mutation (0 available); any Fgfr3 mutation (52 available)
Tg(CMV-cre)1Ipc mutation (0 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

growth/size/body

decreased body size ( J:183772 )

• severe dwarfism

skeleton

abnormal long bone morphology ( J:183772 )

decreased length of long bones ( J:183772 )

abnormal axial skeleton morphology ( J:183772 )

abnormal craniofacial bone morphology ( J:183772 )

• reduced width of skull

domed cranium ( J:183772 )

abnormal thoracic cage morphology ( J:183772 )

• narrow trunk

short ribs ( J:183772 )

abnormal bone structure ( J:183772 )

increased osteoclast cell number ( J:183772 )

• osteoclasts per bone area are increased

• osteoclast surface area/bone surface area is increased

abnormal trabecular bone morphology ( J:183772 )

• fewer subchondral trabeculae

• trabeculae only partially mineralized

• more abundant collagen deposition

• significantly lower bone volume/trabecular volume in distal metaphysis of the femur

abnormal skeleton development ( J:183772 )

abnormal long bone epiphyseal ossification zone morphology ( J:183772 )

• smaller hypertrophic mineralization zone

abnormal long bone epiphysis morphology ( J:183772 )

• reduced size of epiphysis

abnormal bone mineralization ( J:183772 )

• defect in mineralization of calcified cartilage and primary spongiosa

craniofacial

abnormal craniofacial bone morphology ( J:183772 )

• reduced width of skull

domed cranium ( J:183772 )

hematopoietic system

increased osteoclast cell number ( J:183772 )

• osteoclasts per bone area are increased

• osteoclast surface area/bone surface area is increased

immune system

increased osteoclast cell number ( J:183772 )

• osteoclasts per bone area are increased

• osteoclast surface area/bone surface area is increased

Allelic Composition	Fgfr3^tm2Llm/Fgfr3⁺ Tg(Col2a1-cre)1Bhr/?
Genetic Background	involves: 129S2/SvPas * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3^tm2Llm mutation (0 available); any Fgfr3 mutation (52 available)
Tg(Col2a1-cre)1Bhr mutation (3 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

growth/size/body

decreased body size ( J:183772 )

• dwarfism

skeleton

abnormal long bone morphology ( J:183772 )

decreased length of long bones ( J:183772 )

abnormal axial skeleton morphology ( J:183772 )

abnormal craniofacial bone morphology ( J:183772 )

domed cranium ( J:183772 )

abnormal thoracic cage morphology ( J:183772 )

• narrow trunk

short ribs ( J:183772 )

abnormal bone structure ( J:183772 )

increased osteoclast cell number ( J:183772 )

• osteoclasts per bone area are increased

• osteoclast surface area/bone surface area is increased

abnormal trabecular bone morphology ( J:183772 )

• fewer subchondral trabeculae

• trabeculae only partially mineralized

• more abundant collagen deposition

• significantly lower bone volume/trabecular volume in distal metaphysis of the femur

abnormal skeleton development ( J:183772 )

abnormal long bone epiphyseal plate morphology ( J:183772 )

abnormal long bone epiphyseal ossification zone morphology ( J:183772 )

• smaller hypertrophic mineralization zone

abnormal long bone epiphyseal plate proliferative zone ( J:183772 )

• lack proliferative column organization

• proliferative zone reduced

decreased width of hypertrophic chondrocyte zone ( J:183772 )

• reduced hypertrophic zone

• small hypertrophic cells

abnormal long bone epiphysis morphology ( J:183772 )

• reduced size of epiphysis

abnormal bone mineralization ( J:183772 )

• defect in mineralization of calcified cartilage and primary spongiosa

delayed bone ossification ( J:183772 )

• delayed formation of secondary ossification centers

craniofacial

abnormal craniofacial bone morphology ( J:183772 )

domed cranium ( J:183772 )

hematopoietic system

increased osteoclast cell number ( J:183772 )

• osteoclasts per bone area are increased

• osteoclast surface area/bone surface area is increased

immune system

increased osteoclast cell number ( J:183772 )

• osteoclasts per bone area are increased

• osteoclast surface area/bone surface area is increased

Allelic Composition	Fgfr3^tm4Cxd/Fgfr3⁺ Kras^tm4Tyj/Kras⁺ Tg(Upk2-cre)6Xrw/0
Genetic Background	involves: 129S4/SvJae * 129S6/SvEvTac * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3^tm4Cxd mutation (0 available); any Fgfr3 mutation (52 available)
Kras^tm4Tyj mutation (12 available); any Kras mutation (88 available)
Tg(Upk2-cre)6Xrw mutation (0 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

integument

increased skin papilloma incidence ( J:174242 )

• by 1 year of age, 44% of mutants develop skin papilloma, with tumors reaching 1 cm in diameter by a median of 220 days

mortality/aging

premature death ( J:174242 )

• shorter survival due to skin papillomas, with a survival time between 100-400 days

neoplasm

neoplasm ( J:174242 )

N	• mice aged to 12 month do not develop urothelial hyperplasia or urothelial carcinoma or lung tumors

increased skin papilloma incidence ( J:174242 )

• by 1 year of age, 44% of mutants develop skin papilloma, with tumors reaching 1 cm in diameter by a median of 220 days

Allelic Composition	Ctnnb1^tm1Mmt/Ctnnb1⁺ Fgfr3^tm4Cxd/Fgfr3⁺ Tg(Upk2-cre)6Xrw/0
Genetic Background	involves: 129S6/SvEvTac * 129X1/SvJ * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctnnb1^tm1Mmt mutation (0 available); any Ctnnb1 mutation (47 available)
Fgfr3^tm4Cxd mutation (0 available); any Fgfr3 mutation (52 available)
Tg(Upk2-cre)6Xrw mutation (0 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

premature death ( J:174242 )

• shorter survival due to lung cancer, with a survival time between 200-400 days

renal/urinary system

abnormal urinary bladder urothelium morphology ( J:174242 )

• 100% of mutants exhibit areas of hyperproliferation in the bladder urothelium from about 3 months of age, however these lesions do not progress further when examined at 12 months of age

neoplasm

neoplasm ( J:174242 )

N	• despite hyperproliferation in the bladder, mutants do not develop urothelial carcinoma by 12 months of age • mutants do not develop skin papillomas

increased lung tumor incidence ( J:174242 )

• 36% of mutants develop lung tumors by 1 year of age

• lung tumors resemble solitary fibrous tumors of the lugs (hemangiopericytomas)

respiratory system

increased lung tumor incidence ( J:174242 )

• 36% of mutants develop lung tumors by 1 year of age

• lung tumors resemble solitary fibrous tumors of the lugs (hemangiopericytomas)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
lung cancer		DOID:1324	OMIM:211980 OMIM:608935 OMIM:612571 OMIM:612593 OMIM:614210	J:174242

Allelic Composition	Fgfr3^tm4Cxd/Fgfr3⁺ Tg(Col2a1-cre)1Bhr/0
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * NIH Black Swiss * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3^tm4Cxd mutation (0 available); any Fgfr3 mutation (52 available)
Tg(Col2a1-cre)1Bhr mutation (3 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

neonatal lethality, incomplete penetrance ( J:63198 )

• majority die on the first day after birth

skeleton

abnormal skeleton morphology ( J:63198 )

• exhibit skeletal phenotypes similar to heterozygous Fgfr3^tm4.1Cxd mice

respiratory system

impaired lung alveolus development ( J:63198 )

• P1 lungs show reduced alveoli formation similar to that seen in heterozygous Fgfr3^tm4.1Cxd mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
thanatophoric dysplasia		DOID:13481	OMIM:187600 OMIM:187601 OMIM:273680	J:63198

Allelic Composition	Fgfr3^tm4Cxd/Fgfr3⁺ Tg(Upk2-cre)6Xrw/0
Genetic Background	involves: 129S6/SvEvTac * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3^tm4Cxd mutation (0 available); any Fgfr3 mutation (52 available)
Tg(Upk2-cre)6Xrw mutation (0 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

neoplasm

neoplasm ( J:174242 )

N	• mutants do not develop skin or lung tumors, or urothelial hyperplasia, dysplasia or carcinoma

Allelic Composition	Fgfr3^tm1Iwa/Fgfr3⁺ Tg(Upk2-cre)6Xrw/0
Genetic Background	involves: 129S6/SvEvTac * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3^tm1Iwa mutation (0 available); any Fgfr3 mutation (52 available)
Tg(Upk2-cre)6Xrw mutation (0 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

neoplasm

neoplasm ( J:174242 )

N	• mutants do not develop skin or lung tumors, or urothelial hyperplasia, dysplasia or carcinoma

Allelic Composition	Fgf9^tm1Dor/Fgf9⁺ Fgfr3^tm1.1Aomw/Fgfr3⁺
Genetic Background	involves: 129 * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf9^tm1Dor mutation (0 available); any Fgf9 mutation (17 available)
Fgfr3^tm1.1Aomw mutation (4 available); any Fgfr3 mutation (52 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:143356 )

• increased ABR threshold at all test frequencies

impaired hearing ( J:143356 )

Allelic Composition	Fgf8^tm1Mrc/Fgf8⁺ Fgfr3^tm1.1Aomw/Fgfr3⁺
Genetic Background	involves: 129 * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8^tm1Mrc mutation (0 available); any Fgf8 mutation (21 available)
Fgfr3^tm1.1Aomw mutation (4 available); any Fgfr3 mutation (52 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:143356 )

• increased ABR threshold at all test frequencies

impaired hearing ( J:143356 )

Allelic Composition	Fgf8^tm1Mrc/Fgf8⁺ Fgf9^tm1Dor/Fgf9⁺ Fgfr3^tm1.1Aomw/Fgfr3⁺
Genetic Background	involves: 129 * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8^tm1Mrc mutation (0 available); any Fgf8 mutation (21 available)
Fgf9^tm1Dor mutation (0 available); any Fgf9 mutation (17 available)
Fgfr3^tm1.1Aomw mutation (4 available); any Fgfr3 mutation (52 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:143356 )

• increased ABR threshold at all test frequencies

impaired hearing ( J:143356 )

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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