Phenotypes associated with this allele

• Allele Symbol: Sox9^tm1.2Ksec
• Allele Name: targeted mutation 1.2, Kathryn S E Cheah
• Allele ID: MGI:7451121
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sox9^tm1.2Ksec/Sox9^tm1.2Ksec	involves: 129S/SvEv * C57BL/6 * FVB/N	MGI:7451323
ht2	Sox9^tm1.2Ksec/Sox9^+	involves: 129S/SvEv * C57BL/6 * FVB/N	MGI:7451325

Genotype
MGI:7451323

hm1

• Allelic Composition: Sox9^tm1.2Ksec/Sox9^tm1.2Ksec
• Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

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

mortality/aging

prenatal lethality, complete penetrance ( J:332093 )

Genotype
MGI:7451325

ht2

• Allelic Composition: Sox9^tm1.2Ksec/Sox9⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

behavior/neurological

impaired swimming ( J:332093 )

circling ( J:332093 )

hearing/vestibular/ear

abnormal endolymphatic duct morphology ( J:332093 )

• reduced proportions of mitochondrial-rich and ribosomal-rich mature cells and concomitant increase immature cells in endolymphatic sac in E14.5 embryos

limbs/digits/tail

kinked tail ( J:332093 )

mortality/aging

perinatal lethality ( J:332093 )

• only ~10% of mice survive

skeleton

chondrodystrophy ( J:332093 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
campomelic dysplasia		DOID:0050463	OMIM:114290	J:332093