All Phenotypes Fgfr1<+> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Fgfr1^tm2.1Cxd/Fgfr1⁺	B6J.129S6(Cg)-Fgfr1^tm2.1Cxd	MGI:5790249
ht2	Fgfr1^Eask/Fgfr1⁺	BALB/cByJ-Fgfr1^Eask/GrsrJ	MGI:5301811
ht3	Fgfr1^Hspy/Fgfr1⁺	C3HeB/FeJ-Fgfr1^Hspy	MGI:5006971
ht4	Fgfr1^Hspy/Fgfr1⁺	(C3HeB/FeJ-Fgfr1^Hspy x C57BL/6J)F1	MGI:5006972
ht5	Fgfr1^Hspy/Fgfr1⁺	C3HeB/FeJ-Hspy	MGI:3574963
ht6	Fgfr1^{tm1.1(KOMP)Vlcg}/Fgfr1⁺	C57BL/6N-Fgfr1^{tm1.1(KOMP)Vlcg}/Ucd	MGI:5706009
ht7	Fgfr1^tm2.1Cxd/Fgfr1⁺	D2.129S6(Cg)-Fgfr1^tm2.1Cxd	MGI:5790247
ht8	Fgfr1^tm2.1Cxd/Fgfr1⁺	involves: 129S6/SvEvTac * FVB/N	MGI:2181554
cn9	Fgfr1^tm1.1Jpa/Fgfr1⁺ Gt(ROSA)26Sor^{tm5(Etv4/en,-GFP)Amc}/Gt(ROSA)26Sor⁺ Tg(Prrx1-cre)1Cjt/0	involves: 129 * C57BL/6 * CBA * SJL/J * Swiss Webster	MGI:3848913
cn10	Fgfr1^tm1Jpa/Fgfr1⁺ Fgfr2^tm1Dor/Fgfr2^tm1.1Dor Twist2^tm1(cre)Dor/Twist2⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3813484
cn11	Fgfr1^tm1Jpa/Fgfr1⁺ Fgfr2^tm1Dor/Fgfr2^tm1Dor Tg(Pax3-cre)1Joe/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5438671
cn12	Fgfr1^tm1Jpa/Fgfr1⁺ Fgfr2^tm1Dor/Fgfr2^tm1Dor Tg(Hoxb7-cre)5526Cmb/0	involves: FVB/N	MGI:3525687
cx13	Chd7^Whi/Chd7⁺ Fgfr1^Hspy/Fgfr1⁺	C3HeB/FeJ-Chd7^Whi Fgfr1^Hspy	MGI:7491994
cx14	Fgfr1^tm1.1Jpa/Fgfr1⁺ Spry2^tm1.1Mrt/Spry2^tm1.1Mrt	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ	MGI:3702559

Allelic Composition	Fgfr1^tm2.1Cxd/Fgfr1⁺
Genetic Background	B6J.129S6(Cg)-Fgfr1^tm2.1Cxd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1^tm2.1Cxd mutation (0 available); any Fgfr1 mutation (218 available)

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

craniofacial

abnormal viscerocranium morphology ( J:228708 )

• mice show points of attachment of the premaxillary bones to the ipsilateral maxillary and frontal bones at P0 compared to complete disarticulation of these bones in controls

abnormal maxillary-premaxillary suture morphology ( J:228708 )

• P0 skulls show a smoothened appearance of the osteogenic fronts of the premaxillary suture compared to the interdigitated appearance of controls

abnormal palatine bone morphology ( J:228708 )

• the horizontal processes of the palatine bones have a mild dysplasia at the posterior borders in their transition into the vertical plane, however the vertical processes are normal

skeleton

abnormal viscerocranium morphology ( J:228708 )

• mice show points of attachment of the premaxillary bones to the ipsilateral maxillary and frontal bones at P0 compared to complete disarticulation of these bones in controls

abnormal maxillary-premaxillary suture morphology ( J:228708 )

• P0 skulls show a smoothened appearance of the osteogenic fronts of the premaxillary suture compared to the interdigitated appearance of controls

abnormal palatine bone morphology ( J:228708 )

• the horizontal processes of the palatine bones have a mild dysplasia at the posterior borders in their transition into the vertical plane, however the vertical processes are normal

Allelic Composition	Fgfr1^Eask/Fgfr1⁺
Genetic Background	BALB/cByJ-Fgfr1^Eask/GrsrJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1^Eask mutation (1 available); any Fgfr1 mutation (218 available)

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

craniofacial

abnormal outer ear morphology ( J:179274 )

abnormal ear position ( J:179274 )

lowered ear position ( J:179274 )

• variable changes in ear position from normal to very low-set and the mis-positioning of the ear can be unilateral or bilateral

abnormal ear shape ( J:179274 )

• variable degree of malformation of the ear pinnae

hearing/vestibular/ear

abnormal outer ear morphology ( J:179274 )

abnormal ear position ( J:179274 )

lowered ear position ( J:179274 )

• variable changes in ear position from normal to very low-set and the mis-positioning of the ear can be unilateral or bilateral

abnormal ear shape ( J:179274 )

• variable degree of malformation of the ear pinnae

increased or absent threshold for auditory brainstem response ( J:179274 )

• increased ABR threshold at 6 months of age indicative of severe hearing loss

vision/eye

vision/eye phenotype ( J:179274 )

N	• ophthalmoscopic assessment of 2 heterozygotes at 3 months of age found no eye defects

growth/size/body

abnormal outer ear morphology ( J:179274 )

abnormal ear position ( J:179274 )

lowered ear position ( J:179274 )

• variable changes in ear position from normal to very low-set and the mis-positioning of the ear can be unilateral or bilateral

abnormal ear shape ( J:179274 )

• variable degree of malformation of the ear pinnae

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
otitis media		DOID:10754		J:222308

Allelic Composition	Fgfr1^Hspy/Fgfr1⁺
Genetic Background	C3HeB/FeJ-Fgfr1^Hspy

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1^Hspy mutation (1 available); any Fgfr1 mutation (218 available)

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

Abnormal stapes morphology in Fgfr1^Hspy/Fgfr1⁺ mice

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:171915 )

N	• mice exhibit normal malleus

abnormal incus morphology ( J:171915 )

• Background Sensitivity: 6 of 29 and 4 of 28 mice on a coisogenic C3HeB/FeJ background exhibit left and right ear, respectively, incus defects unlike mice on a background containing C57BL/6J

abnormal stapes morphology ( J:171915 )

• Background Sensitivity: 27 of 28 and 27 of 27 mice on a coisogenic C3HeB/FeJ background exhibit left and right ear, respectively, stapes defects compared with one mouse on a background containing C57BL/6J

abnormal outer ear morphology ( J:171915 )

• Background Sensitivity: 17 of 23 and 15 of 23 mice on a coisogenic C3HeB/FeJ background exhibit left and right ear, respectively, pinna defects compared with 2 of 31 mice on a background containing C57BL/6J

small ears ( J:171915 )

• mice show variable ear size, ranging from normal to small pinna

craniofacial

abnormal incus morphology ( J:171915 )

• Background Sensitivity: 6 of 29 and 4 of 28 mice on a coisogenic C3HeB/FeJ background exhibit left and right ear, respectively, incus defects unlike mice on a background containing C57BL/6J

abnormal stapes morphology ( J:171915 )

abnormal snout morphology ( J:171915 )

• some skulls have curved noses

short snout ( J:171915 )

• some mice haave shorter skulls

abnormal outer ear morphology ( J:171915 )

small ears ( J:171915 )

• mice show variable ear size, ranging from normal to small pinna

skeleton

abnormal incus morphology ( J:171915 )

• Background Sensitivity: 6 of 29 and 4 of 28 mice on a coisogenic C3HeB/FeJ background exhibit left and right ear, respectively, incus defects unlike mice on a background containing C57BL/6J

abnormal stapes morphology ( J:171915 )

growth/size/body

abnormal snout morphology ( J:171915 )

• some skulls have curved noses

short snout ( J:171915 )

• some mice haave shorter skulls

abnormal outer ear morphology ( J:171915 )

small ears ( J:171915 )

• mice show variable ear size, ranging from normal to small pinna

Allelic Composition	Fgfr1^Hspy/Fgfr1⁺
Genetic Background	(C3HeB/FeJ-Fgfr1^Hspy x C57BL/6J)F1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1^Hspy mutation (1 available); any Fgfr1 mutation (218 available)

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:171915 )

N	• Background Sensitivity: unlike on a coisogenic C3HeB/FeJ background, all mice exhibit normal incus • mice exhibit normal malleus

abnormal stapes morphology ( J:171915 )

• Background Sensitivity: one mouse on a background containing C57BL/6J exhibited unilateral stapes defect compared with 27 of 28 mice on a coisogenic C3HeB/FeJ background which exhibit bilateral stapes defects

abnormal outer ear morphology ( J:171915 )

• Background Sensitivity: 2 of 31 mice on a background containing C57BL/6J exhibit bilateral pinna defects compared with 15 of 23 mice on a coisogenic C3HeB/FeJ background which exhibit bilateral pinna defects

craniofacial

abnormal stapes morphology ( J:171915 )

abnormal outer ear morphology ( J:171915 )

skeleton

abnormal stapes morphology ( J:171915 )

growth/size/body

abnormal outer ear morphology ( J:171915 )

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

behavior/neurological

abnormal pinna reflex ( J:95895 )

• 3 out of 4 mutants with bilateral pinna defects demonstrated weak Preyer reflex bilaterally and some mutants with unilateral pinna defects exhibited an asymmetrical reduced or absent Preyer reflex

craniofacial

absent round window ( J:95895 )

• round window was small or not visible in 13 out of 20 adults

decreased round window size ( J:95895 )

• round window was small or not visible in 13 out of 20 adults

small cranium ( J:95895 )

• significantly smaller in the longitudinal length of skull, length of the nasal bones from the tip of snout to the nasion, the mandibular ramus measured from the tip of the incisors to the angle of mandible and in the ratio of the longitudinal length of the skull to the inerparietal distance, indicating a shorter anteroposterior dimension of the skull but not a globally smaller skull

short mandible ( J:95895 )

• length of the mandible (from the angle of the mandible to the tip of the incisors) was significantly shorter than in controls

short nasal bone ( J:95895 )

• the length of the nasal bone was significantly shorter than in controls

abnormal incus morphology ( J:95895 )

• some mutants exhibited bilateral incus abnormalities including various combinations of a small body, small short process, short long process and absent lenticular process

• some mutants exhibited unilateral incus defects such as a fused incudostapedial joint and absent head and posterior crus of the stapes bilaterally

abnormal incus body morphology ( J:95895 )

• small incus body in some cases

absent incus lenticular process ( J:95895 )

• absent lenticular process in some cases

abnormal incus long process morphology ( J:95895 )

• short incus long process in some cases

abnormal incus short process morphology ( J:95895 )

• small incus short process in some cases

abnormal stapes morphology ( J:95895 )

• mutants exhibited various degrees of malformations of the suprastructure of the stapes ranging from completely solid to absence of head and posterior crus

abnormal stapes posterior crus morphology ( J:95895 )

• absence of stapes posterior crus in some cases

absent stapes head ( J:95895 )

• absence of stapes head in some cases

abnormal outer ear morphology ( J:95895 )

• unilateral and bilateral pinna defects

lowered ear position ( J:95895 )

• pinnae were more low-set than controls

abnormal ear shape ( J:95895 )

• pinnae were batted or pointed

excessive cerumen ( J:95895 )

• exhibited excessive cerumen in the external ear canal

small ears ( J:95895 )

• pinnae were smaller than in controls

hearing/vestibular/ear

abnormal outer ear morphology ( J:95895 )

• unilateral and bilateral pinna defects

lowered ear position ( J:95895 )

• pinnae were more low-set than controls

abnormal ear shape ( J:95895 )

• pinnae were batted or pointed

excessive cerumen ( J:95895 )

• exhibited excessive cerumen in the external ear canal

small ears ( J:95895 )

• pinnae were smaller than in controls

abnormal auditory bulla morphology ( J:95895 )

• bullae had thickened, vascular bone over the round window area

abnormal inner ear morphology ( J:95895 )

decreased cochlear outer hair cell number ( J:95895 )

• reduced rows (only two) of outer hair cells in the apex and base of the organ of Corti in P29-P30 mice

abnormal middle ear morphology ( J:95895 )

absent round window ( J:95895 )

• round window was small or not visible in 13 out of 20 adults

decreased round window size ( J:95895 )

• round window was small or not visible in 13 out of 20 adults

abnormal incus morphology ( J:95895 )

• some mutants exhibited bilateral incus abnormalities including various combinations of a small body, small short process, short long process and absent lenticular process

• some mutants exhibited unilateral incus defects such as a fused incudostapedial joint and absent head and posterior crus of the stapes bilaterally

abnormal incus body morphology ( J:95895 )

• small incus body in some cases

absent incus lenticular process ( J:95895 )

• absent lenticular process in some cases

abnormal incus long process morphology ( J:95895 )

• short incus long process in some cases

abnormal incus short process morphology ( J:95895 )

• small incus short process in some cases

abnormal stapes morphology ( J:95895 )

• mutants exhibited various degrees of malformations of the suprastructure of the stapes ranging from completely solid to absence of head and posterior crus

abnormal stapes posterior crus morphology ( J:95895 )

• absence of stapes posterior crus in some cases

absent stapes head ( J:95895 )

• absence of stapes head in some cases

abnormal ear physiology ( J:95895 )

decreased endocochlear potential ( J:95895 )

• 2 out of 6 mutants had endocochlear potentials below the normal range

abnormal cochlear nerve compound action potential ( J:95895 )

• showed a wide range in the thresholds for compound action potentials (reflecting cochlear nerve activity) that were all increased in comparison to controls

increased susceptibility to otitis media ( J:95895 )

• all mutants showed some sign of middle ear inflammation, ranging from a thin membranous covering lining the middle ear cavity to a middle ear filled with fluid or pus

immune system

increased susceptibility to otitis media ( J:95895 )

• all mutants showed some sign of middle ear inflammation, ranging from a thin membranous covering lining the middle ear cavity to a middle ear filled with fluid or pus

skeleton

absent round window ( J:95895 )

• round window was small or not visible in 13 out of 20 adults

decreased round window size ( J:95895 )

• round window was small or not visible in 13 out of 20 adults

small cranium ( J:95895 )

short mandible ( J:95895 )

• length of the mandible (from the angle of the mandible to the tip of the incisors) was significantly shorter than in controls

short nasal bone ( J:95895 )

• the length of the nasal bone was significantly shorter than in controls

abnormal incus morphology ( J:95895 )

• some mutants exhibited bilateral incus abnormalities including various combinations of a small body, small short process, short long process and absent lenticular process

• some mutants exhibited unilateral incus defects such as a fused incudostapedial joint and absent head and posterior crus of the stapes bilaterally

abnormal incus body morphology ( J:95895 )

• small incus body in some cases

absent incus lenticular process ( J:95895 )

• absent lenticular process in some cases

abnormal incus long process morphology ( J:95895 )

• short incus long process in some cases

abnormal incus short process morphology ( J:95895 )

• small incus short process in some cases

abnormal stapes morphology ( J:95895 )

• mutants exhibited various degrees of malformations of the suprastructure of the stapes ranging from completely solid to absence of head and posterior crus

abnormal stapes posterior crus morphology ( J:95895 )

• absence of stapes posterior crus in some cases

absent stapes head ( J:95895 )

• absence of stapes head in some cases

abnormal incudostapedial joint morphology ( J:95895 )

• fused incudostapedial joint in some cases

nervous system

decreased cochlear outer hair cell number ( J:95895 )

• reduced rows (only two) of outer hair cells in the apex and base of the organ of Corti in P29-P30 mice

abnormal cochlear nerve compound action potential ( J:95895 )

• showed a wide range in the thresholds for compound action potentials (reflecting cochlear nerve activity) that were all increased in comparison to controls

growth/size/body

short nasal bone ( J:95895 )

• the length of the nasal bone was significantly shorter than in controls

abnormal outer ear morphology ( J:95895 )

• unilateral and bilateral pinna defects

lowered ear position ( J:95895 )

• pinnae were more low-set than controls

abnormal ear shape ( J:95895 )

• pinnae were batted or pointed

excessive cerumen ( J:95895 )

• exhibited excessive cerumen in the external ear canal

small ears ( J:95895 )

• pinnae were smaller than in controls

respiratory system

short nasal bone ( J:95895 )

• the length of the nasal bone was significantly shorter than in controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
otitis media		DOID:10754		J:95895

Allelic Composition	Fgfr1^{tm1.1(KOMP)Vlcg}/Fgfr1⁺
Genetic Background	C57BL/6N-Fgfr1^{tm1.1(KOMP)Vlcg}/Ucd
Cell Lines	12134A-F2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1^{tm1.1(KOMP)Vlcg} mutation (1 available); any Fgfr1 mutation (218 available)

Data Sources

IMPC Data for Fgfr1

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

homeostasis/metabolism

increased respiratory quotient ( J:211773 )

IMPC - TCP

Allelic Composition	Fgfr1^tm2.1Cxd/Fgfr1⁺
Genetic Background	D2.129S6(Cg)-Fgfr1^tm2.1Cxd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1^tm2.1Cxd mutation (0 available); any Fgfr1 mutation (218 available)

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

craniofacial

abnormal basisphenoid bone morphology ( J:228708 )

• premature fusion of the palatine-basisphenoid bones

abnormal viscerocranium morphology ( J:228708 )

• mice show points of attachment of the premaxillary bones to the ipsilateral maxillary and frontal bones at P0 compared to complete disarticulation of these bones in controls

• mice show a lack of dissociation of the supero-lateral junctions of the vertical processes of the paired palatine bones with the basisphenoid bone

abnormal maxillary-premaxillary suture morphology ( J:228708 )

• P0 skulls show a smoothened appearance of the osteogenic fronts of the premaxillary suture compared to the interdigitated appearance of controls

• premaxillary sutures exhibit an absence of suture fusion at P0 but show fusion of the premaxillary-maxillary suture at P3

• mice show reduced width of the intrasutural mesenchyme between the maxillary and premaxillary bones in the sagittal plane

abnormal palatine bone morphology ( J:228708 )

• severe palatine bone dysplasia involving the vertical bony processes, with this process curving anteriorly instead of posteriorly

• premature fusion of the palatine-basisphenoid bones

midface hypoplasia ( J:228708 )

• mice develop midface hypoplasia from P3 onward

growth/size/body

midface hypoplasia ( J:228708 )

• mice develop midface hypoplasia from P3 onward

skeleton

abnormal basisphenoid bone morphology ( J:228708 )

• premature fusion of the palatine-basisphenoid bones

abnormal viscerocranium morphology ( J:228708 )

• mice show points of attachment of the premaxillary bones to the ipsilateral maxillary and frontal bones at P0 compared to complete disarticulation of these bones in controls

• mice show a lack of dissociation of the supero-lateral junctions of the vertical processes of the paired palatine bones with the basisphenoid bone

abnormal maxillary-premaxillary suture morphology ( J:228708 )

• P0 skulls show a smoothened appearance of the osteogenic fronts of the premaxillary suture compared to the interdigitated appearance of controls

• premaxillary sutures exhibit an absence of suture fusion at P0 but show fusion of the premaxillary-maxillary suture at P3

• mice show reduced width of the intrasutural mesenchyme between the maxillary and premaxillary bones in the sagittal plane

abnormal palatine bone morphology ( J:228708 )

• severe palatine bone dysplasia involving the vertical bony processes, with this process curving anteriorly instead of posteriorly

• premature fusion of the palatine-basisphenoid bones

premature maxillary-premaxillary suture closure ( J:228708 )

• mice show fusion of the premaxillary-maxillary suture at P3

• however, the maxillary-palatine and nasal-frontal midfacial sutures do not show premature fusion at P3

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Pfeiffer syndrome		DOID:14705	OMIM:101600	J:228708

Allelic Composition	Fgfr1^tm2.1Cxd/Fgfr1⁺
Genetic Background	involves: 129S6/SvEvTac * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1^tm2.1Cxd mutation (0 available); any Fgfr1 mutation (218 available)

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

cellular

increased osteoblast proliferation ( J:63959 )

• osteoblast proliferation is increased compared to in wild-type mice

craniofacial

abnormal craniofacial bone morphology ( J:63959 )

• although normal at birth, mice develop craniofacial abnormalities beginning at P3

long incisors ( J:63959 )

facial asymmetry ( J:63959 )

• mice exhibit facial asymmetry with anterio-posterior shortening, lateral widening and vertical heightening compared with wild-type mice

midface hypoplasia ( J:63959 )

• mice exhibit midface hypoplasia compared with wild-type mice

skeleton

increased osteoblast proliferation ( J:63959 )

• osteoblast proliferation is increased compared to in wild-type mice

abnormal craniofacial bone morphology ( J:63959 )

• although normal at birth, mice develop craniofacial abnormalities beginning at P3

long incisors ( J:63959 )

increased osteoblast cell number ( J:63959 )

• due to increased osteoblast proliferation

premature cranial suture closure ( J:63959 )

• at P16 to P21, mice exhibit premature fusion of the frontal, saggital, and coronal sutures unlike in wild-type mice

• lamboid and occipitointerparietal sutures appear normal

• no cranial base abnormality is observed at P20

premature coronal suture closure ( J:63959 )

• at P16 to P21, mice exhibit premature fusion of the coronal sutures unlike in wild-type mice

premature metopic suture closure ( J:63959 )

• at P16 to P21, mice exhibit premature fusion of the anterior frontal and posterior frontal sutures unlike in wild-type mice

premature sagittal suture closure ( J:63959 )

• at P16 to P21, mice exhibit premature fusion of the saggital sutures unlike in wild-type mice

vision/eye

ocular hypertelorism ( J:63959 )

• in 12 of 20 mice

growth/size/body

long incisors ( J:63959 )

facial asymmetry ( J:63959 )

• mice exhibit facial asymmetry with anterio-posterior shortening, lateral widening and vertical heightening compared with wild-type mice

midface hypoplasia ( J:63959 )

• mice exhibit midface hypoplasia compared with wild-type mice

Allelic Composition	Fgfr1^tm1.1Jpa/Fgfr1⁺ Gt(ROSA)26Sor^{tm5(Etv4/en,-GFP)Amc}/Gt(ROSA)26Sor⁺ Tg(Prrx1-cre)1Cjt/0
Genetic Background	involves: 129 * C57BL/6 * CBA * SJL/J * Swiss Webster

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1^tm1.1Jpa mutation (0 available); any Fgfr1 mutation (218 available)
Gt(ROSA)26Sor^{tm5(Etv4/en,-GFP)Amc} mutation (0 available); any Gt(ROSA)26Sor mutation (1098 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)

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

limbs/digits/tail

abnormal limb development ( J:149478 )

• at P1, mice exhibit a more severe zeugopod phenotypes than in Gt(ROSA)26Sor^{tm5(Etv4/en,-GFP)Amc}/Gt(ROSA)26Sor⁺ Tg(Prrx1-cre)1Cjt mice

Allelic Composition	Fgfr1^tm1Jpa/Fgfr1⁺ Fgfr2^tm1Dor/Fgfr2^tm1.1Dor Twist2^tm1(cre)Dor/Twist2⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1^tm1Jpa mutation (0 available); any Fgfr1 mutation (218 available)
Fgfr2^tm1.1Dor mutation (0 available); any Fgfr2 mutation (88 available)
Fgfr2^tm1Dor mutation (3 available); any Fgfr2 mutation (88 available)
Twist2^tm1(cre)Dor mutation (0 available); any Twist2 mutation (10 available)

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

digestive/alimentary system

abnormal small intestine morphology ( J:139005 )

• there is about a 15% reduction in the length of the small intestine at E18.5 compared to controls

Allelic Composition	Fgfr1^tm1Jpa/Fgfr1⁺ Fgfr2^tm1Dor/Fgfr2^tm1Dor Tg(Pax3-cre)1Joe/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1^tm1Jpa mutation (0 available); any Fgfr1 mutation (218 available)
Fgfr2^tm1Dor mutation (3 available); any Fgfr2 mutation (88 available)
Tg(Pax3-cre)1Joe mutation (0 available)

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

renal/urinary system

renal/urinary system phenotype ( J:107078 )

N	• mice exhibit normal-appearing kidneys after birth • kidneys exhibit normal cortical and medullary structures at E16.5 and remain normal throughout embryonic development

Allelic Composition	Fgfr1^tm1Jpa/Fgfr1⁺ Fgfr2^tm1Dor/Fgfr2^tm1Dor Tg(Hoxb7-cre)5526Cmb/0
Genetic Background	involves: FVB/N

Find Mice

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

renal/urinary system

decreased renal glomerulus number ( J:95018 )

• 22% and 24% fewer glomeruli in E11.5 explants and adult kidneys, respectively

abnormal kidney development ( J:95018 )

• defects in cortical stromal mesenchyme patterning, showing aberrantly thickened stroma in subcapsular regions in E13.5 kidneys and regions of massive subcapsular apoptosis in stroma

• absent intercalated stripes of stromal cells in E13.5 kidneys

hydronephrosis ( J:95018 )

• 20% of adult mutants had hydronephrosis occurring unilaterally or bilaterally

small kidney ( J:95018 )

• E13.5 and E16.5 kidneys were smaller than controls

• 80% of adult mutants had small, abnormally shaped kidneys

abnormal ureteric bud morphology ( J:95018 )

• range of ureteric bud defects at E16.5, including extremely small kidneys with large areas devoid of ureteric tissue

• increased apoptotic nuclei in ureteric buds (2-3 apoptotic nuclei compared to none or just one in controls)

• decreased rates of proliferation in ureteric bud tips compared with controls

impaired branching involved in ureteric bud morphogenesis ( J:95018 )

• E11.5 ureteric bud explants exhibited aberrant branching and had abnormally thin, long ureteric stalks and fewer peripheral tips, with a range in phenotype severity

• decrease in the mean number of ureteric bud tips on the surface of E16.5 kidneys (89.5 versus 271 in control)

Allelic Composition	Chd7^Whi/Chd7⁺ Fgfr1^Hspy/Fgfr1⁺
Genetic Background	C3HeB/FeJ-Chd7^Whi Fgfr1^Hspy

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7^Whi mutation (1 available); any Chd7 mutation (134 available)
Fgfr1^Hspy mutation (1 available); any Fgfr1 mutation (218 available)

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

mortality/aging

preweaning lethality, complete penetrance ( J:161880 )

• no mice were recovered at weaning (0/55)

perinatal lethality, complete penetrance ( J:161880 )

• 2 mice were recovered at P0 (1 dead), suggesting perinatal or early postnatal lethality

growth/size/body

cleft palate ( J:161880 )

• at E16.5, mice showed cleft palate with variable penetrance

choanal atresia ( J:161880 )

• at E16.5, mice showed choanal atresia with variable penetrance

craniofacial

cleft palate ( J:161880 )

• at E16.5, mice showed cleft palate with variable penetrance

choanal atresia ( J:161880 )

• at E16.5, mice showed choanal atresia with variable penetrance

cardiovascular system

abnormal heart morphology ( J:161880 )

• at E16.5, mice showed a heart defect with variable penetrance

digestive/alimentary system

cleft palate ( J:161880 )

• at E16.5, mice showed cleft palate with variable penetrance

respiratory system

choanal atresia ( J:161880 )

• at E16.5, mice showed choanal atresia with variable penetrance

nervous system

nervous system phenotype ( J:161880 )

N	• mice showed a normal distribution of the GnRH1 neurons at E16.5 • mice do NOT display olfactory bulb defects

reproductive system

reproductive system phenotype ( J:161880 )

N	• mice do NOT display hypogonadotropic hypogonadism

Allelic Composition	Fgfr1^tm1.1Jpa/Fgfr1⁺ Spry2^tm1.1Mrt/Spry2^tm1.1Mrt
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr1^tm1.1Jpa mutation (0 available); any Fgfr1 mutation (218 available)
Spry2^tm1.1Mrt mutation (1 available); any Spry2 mutation (22 available)

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

craniofacial

supernumerary teeth ( J:119280 )

• frequency of diastema tooth formation is reduced to 60% compared to almost 100% in mice homozygous for the Spry2 allele alone

growth/size/body

supernumerary teeth ( J:119280 )

• frequency of diastema tooth formation is reduced to 60% compared to almost 100% in mice homozygous for the Spry2 allele alone

skeleton

supernumerary teeth ( J:119280 )

• frequency of diastema tooth formation is reduced to 60% compared to almost 100% in mice homozygous for the Spry2 allele alone

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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