Phenotypes associated with this allele

• Allele Symbol: Fgfr3^tm1.1Iwa
• Allele Name: targeted mutation 1.1, Tomoko Iwata
• Allele ID: MGI:2388062
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fgfr3^tm1.1Iwa/Fgfr3^tm1.1Iwa	involves: 129S6/SvEvTac * FVB/N * NIH Black Swiss	MGI:3640197
hm2	Fgfr3^tm1.1Iwa/Fgfr3^tm1.1Iwa	involves: 129S6/SvEvTac * NIH Black Swiss * CD-1 * FVB/N	MGI:3814068
ht3	Fgfr3^tm1.1Iwa/Fgfr3^+	involves: 129S6/SvEvTac * FVB/N * NIH Black Swiss	MGI:3640198

Genotype
MGI:3640197

hm1

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

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

mortality/aging

prenatal lethality, complete penetrance ( J:70061 )

• homozygotes are never observed after birth

Genotype
MGI:3814068

hm2

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

mortality/aging

prenatal lethality, complete penetrance ( J:70061 )

• no homozygotes are found after birth, indicating lethality during gestation

Genotype
MGI:3640198

ht3

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

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 )

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

• exhibit ingrowth of mesenchymal tissue across the physis at P17

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

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