Phenotypes Associated with This Genotype

Genotype
MGI:3640323

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

• ♀: 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