Phenotypes associated with this allele

• Allele Symbol: Col2a1^sedc
• Allele Name: spondyloepiphyseal dysplasia congenita
• Allele ID: MGI:2676325
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col2a1^sedc/Col2a1^sedc	involves: C57BL/6J	MGI:2676332

Genotype
MGI:2676332

hm1

• Allelic Composition: Col2a1^sedc/Col2a1^sedc
• Genetic Background: involves: C57BL/6J

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

behavior/neurological

head bobbing ( J:85735 )

• manifests early and often apparent from birth

spinning ( J:85735 )

seizures ( J:85735 )

digestive/alimentary system

abnormal digestive system physiology ( J:85735 )

growth/size/body

decreased body weight ( J:85735 )

decreased body length ( J:85735 )

• as the mutants mature and age, their bodies appear shorter and stockier and weigh less than those of their littermates

hearing/vestibular/ear

impaired hearing ( J:85735 )

• mice had a significant hearing impairment

• no anomalies were observed by light microscopy of whole mounts or cross sections of the inner ear

vision/eye

disorganized retina layers ( J:85735 )

• ophthalmoscopic examination revealed an unusual defect wherein the inner and outer layers of the inner nuclear layer (INL) of the retina had become separated

nervous system

seizures ( J:85735 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spondyloepiphyseal dysplasia congenita		DOID:14789	OMIM:183900	J:85735