Phenotypes Associated with This Genotype

Genotype
MGI:3620090

• Allelic Composition: Chm^tm1.3Seab/Chm⁺
• Genetic Background: involves: 129X1/SvJ

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

homeostasis/metabolism

abnormal response/metabolism to endogenous compounds ( J:105458 )

♀ • 50% reduction in prenylation of Rab27a

♀ • 50% of Rab27a occurs in cytosol rather than cell membranes

vision/eye

abnormal retina morphology ( J:105458 )

♀ • early onset and progressive retinopathy

abnormal photoreceptor outer segment morphology ( J:105458 )

♀ • delayed development of outer segments

♀ • outer segments approximately 50% shorter at 15-17 days of age

♀ • areas where rod outer segments have disappeared

retina photoreceptor degeneration ( J:105458 )

♀ • histologically evident late onset progressive degeneration of photoreceptors

abnormal retina pigment epithelium morphology ( J:105458 )

♀ • patchy depigmented areas

♀ • becoming thinner

abnormal retina pigmentation ( J:105458 )

♀ • hypopigmentation of retina

♀ • small whitish patches observable at 1 month of age

thin retina outer nuclear layer ( J:105458 )

♀ • slight reduction in thickness at 2 months of age

♀ • 8-10 nuclei thick rather than 10-12 at 8 months of age

♀ • thickness declines to 5-6 nuclei later with areas of 1-2 nuclei or no nuclei at all

abnormal rod electrophysiology ( J:105458 )

♀ • electroretinography shows a clear reduction of dark-adapted a and b wave amplitude

pigmentation

abnormal retina pigment epithelium morphology ( J:105458 )

♀ • patchy depigmented areas

♀ • becoming thinner

abnormal retina pigmentation ( J:105458 )

♀ • hypopigmentation of retina

♀ • small whitish patches observable at 1 month of age

nervous system

abnormal photoreceptor outer segment morphology ( J:105458 )

♀ • delayed development of outer segments

♀ • outer segments approximately 50% shorter at 15-17 days of age

♀ • areas where rod outer segments have disappeared

retina photoreceptor degeneration ( J:105458 )

♀ • histologically evident late onset progressive degeneration of photoreceptors

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