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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Fgfr3tm1.1Iwa
targeted mutation 1.1, Tomoko Iwata
MGI:2388062
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Fgfr3tm1.1Iwa/Fgfr3tm1.1Iwa involves: 129S6/SvEvTac * FVB/N * NIH Black Swiss MGI:3640197
hm2
Fgfr3tm1.1Iwa/Fgfr3tm1.1Iwa involves: 129S6/SvEvTac * NIH Black Swiss * CD-1 * FVB/N MGI:3814068
ht3
Fgfr3tm1.1Iwa/Fgfr3+ involves: 129S6/SvEvTac * FVB/N * NIH Black Swiss MGI:3640198


Genotype
MGI:3640197
hm1
Allelic
Composition
Fgfr3tm1.1Iwa/Fgfr3tm1.1Iwa
Genetic
Background
involves: 129S6/SvEvTac * FVB/N * NIH Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3tm1.1Iwa mutation (0 available); any Fgfr3 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes are never observed after birth




Genotype
MGI:3814068
hm2
Allelic
Composition
Fgfr3tm1.1Iwa/Fgfr3tm1.1Iwa
Genetic
Background
involves: 129S6/SvEvTac * NIH Black Swiss * CD-1 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3tm1.1Iwa mutation (0 available); any Fgfr3 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no homozygotes are found after birth, indicating lethality during gestation




Genotype
MGI:3640198
ht3
Allelic
Composition
Fgfr3tm1.1Iwa/Fgfr3+
Genetic
Background
involves: 129S6/SvEvTac * FVB/N * NIH Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3tm1.1Iwa mutation (0 available); any Fgfr3 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 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
• distinguishable at birth by a mildly round head
• those that die 4 weeks after birth are very small

craniofacial
• enlarged hyoid bone
• seen in severely affected mice, although some several severely affected mice die without malocclusion

limbs/digits/tail
• shorter limbs with particularly shortened ossified zone

skeleton
• enlarged hyoid bone
• seen in severely affected mice, although some several severely affected mice die without malocclusion
• wider and shorter limb long bones
• delay in sternabrae ossification at P1
• 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
• smaller rib cage is evident after P4
• exhibit curvature of the axial skeleton
• decrease in chondrocyte differentiation
• exhibit abnormal chondrocyte proliferation, with increased proliferation during embryo development but decreased proliferation in the postnatal growth plate chondrocytes
• 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
• overgrowth of hyaline cartilage, including the trachea and the nasal septa and hypertrophy of the thyroid, cricoid, and tracheal cartilages
• growth plates at the junctions of the rib-bone and the costal cartilage at P17 are abnormal
• 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
• chondrocytes have shorter columnar structures of the proliferating zone
• hypertrophic chondrocytes are sparse and not fully mature
• 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





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last database update
12/05/2017
MGI 6.11
The Jackson Laboratory