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Phenotypes Associated with This Genotype
Genotype
MGI:3620089
Allelic
Composition
Chmtm1.2Seab/Chm+
Genetic
Background
involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chmtm1.2Seab mutation (0 available); any Chm mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• 50% reduction in prenylation of Rab27a
• 50% of Rab27a occurs in cytosol rather than cell membranes

vision/eye
• early onset and progressive retinopathy
• delayed development of outer segments
• outer segments approximately 50% shorter at 15-17 days of age
• hypopigmentation of retina
• small whitish patches observable at 1 month of age
• electroretinography shows a clear reduction of dark-adapted a and b wave amplitude

pigmentation
• hypopigmentation of retina
• small whitish patches observable at 1 month of age

nervous system
• delayed development of outer segments
• outer segments approximately 50% shorter at 15-17 days of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
choroideremia DOID:9821 OMIM:303100
J:105458


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
02/23/2021
MGI 6.16
The Jackson Laboratory