Phenotypes associated with this allele

• Allele Symbol: Sox9^Bbfc
• Allele Name: babyface
• Allele ID: MGI:5546026
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sox9^Bbfc/Sox9^Bbfc	C57BL/6J-Sox9^Bbfc/GrsrJ	MGI:5691383
ht2	Sox9^Bbfc/Sox9^+	C57BL/6J-Sox9^Bbfc/GrsrJ	MGI:5659902

Genotype
MGI:5691383

hm1

• Allelic Composition: Sox9^Bbfc/Sox9^Bbfc
• Genetic Background: C57BL/6J-Sox9^Bbfc/GrsrJ

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

mortality/aging

embryonic lethality prior to organogenesis ( J:223062 )

embryonic lethality, complete penetrance ( J:223062 )

• timed matings of heterozgyotes produced no homozygous embryos in dissections at E12.5, E9.5, or E7.5, the earliest timepoint assessed

Genotype
MGI:5659902

ht2

• Allelic Composition: Sox9^Bbfc/Sox9⁺
• Genetic Background: C57BL/6J-Sox9^Bbfc/GrsrJ

adipose tissue

decreased total body fat amount ( J:223062 )

♂ • much lower total body fat in males but no significant difference in females

decreased percent body fat/body weight ( J:223062 )

♂

vision/eye

vision/eye phenotype ( J:223062 )

N • no abnormalities detected in the eyes

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:223062 )

N • no hearing deficit detected

reproductive system

reproductive system phenotype ( J:223062 )

N • no intersex or putatively sex-reversed mice have been noted, sex ratios are normal at birth, and males are fertile

craniofacial

decreased cranium length ( J:223062 )

short maxilla ( J:223062 )

♂

domed cranium ( J:223062 )

short snout ( J:223062 )

abnormal head shape ( J:223062 )

• both females and males have a shortened snout, reduced skull length, and the skull hight to length ratio is increased consistent with the domed appearance of the head

shortened head ( J:223062 )

growth/size/body

short maxilla ( J:223062 )

♂

short snout ( J:223062 )

abnormal head shape ( J:223062 )

• both females and males have a shortened snout, reduced skull length, and the skull hight to length ratio is increased consistent with the domed appearance of the head

shortened head ( J:223062 )

decreased body weight ( J:223062 )

♂ • males but not females have a significant decrease in total body mass

skeleton

decreased cranium length ( J:223062 )

short maxilla ( J:223062 )

♂

domed cranium ( J:223062 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
campomelic dysplasia		DOID:0050463	OMIM:114290	J:223062