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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Col2a1sedc
spondyloepiphyseal dysplasia congenita
MGI:2676325
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Col2a1sedc/Col2a1sedc involves: C57BL/6J MGI:2676332


Genotype
MGI:2676332
hm1
Allelic
Composition
Col2a1sedc/Col2a1sedc
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col2a1sedc mutation (1 available); any Col2a1 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• manifests early and often apparent from birth

digestive/alimentary system

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

hearing/vestibular/ear
• 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
• 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

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





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/16/2021
MGI 6.16
The Jackson Laboratory