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Phenotypes Associated with This Genotype
Genotype
MGI:2676332
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 (J:85735)
• manifests early and often apparent from birth (J:85735)

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 (J:85735)
• as the mutants mature and age, their bodies appear shorter and stockier and weigh less than those of their littermates (J:85735)

hearing/vestibular/ear
• mice had a significant hearing impairment (J:85735)
• no anomalies were observed by light microscopy of whole mounts or cross sections of the inner ear (J:85735)
• mice had a significant hearing impairment (J:85735)
• no anomalies were observed by light microscopy of whole mounts or cross sections of the inner ear (J:85735)

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 (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 (J:85735)

nervous system

Mouse Models of Human Disease
OMIM ID Ref(s)
Spondyloepiphyseal Dysplasia Congenita; SEDC 183900 J:85735


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory