Phenotypes Associated with This Genotype

Genotype
MGI:5925277

• Allelic Composition: Clcn2^nmf289/Clcn2^nmf289
• Genetic Background: CByJ.Cg-Clcn2^nmf289/Pjn

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

pigmentation

abnormal retina pigment epithelium morphology ( J:243745 )

• retinal pigment epithelial cells have elongated apical microvilli by 14 days of age

cellular

azoospermia ( J:243745 )

♂ • homozygotes lack spermatocytes, spermatids, and mature spermatozoa and are sterile

reproductive system

azoospermia ( J:243745 )

♂ • homozygotes lack spermatocytes, spermatids, and mature spermatozoa and are sterile

male infertility ( J:243745 )

♂

vision/eye

abnormal ocular fundus morphology ( J:243745 )

• vascular thinning and clearer definition of choroidal vessels

retina photoreceptor degeneration ( J:243745 )

• mild, slow progressing with 4 to 5 photoreceptor layers still present at 1 month of age

abnormal retina pigment epithelium morphology ( J:243745 )

• retinal pigment epithelial cells have elongated apical microvilli by 14 days of age

abnormal rod electrophysiology ( J:243745 )

• dark-adapted ERG responses are substantially reduced by 1 month of age

nervous system

brain vacuoles ( J:243745 )

• homozygotes assesssed between 3 and 6 months of age have prominant vacuolization in the white matter of the corpus callosum, brain stem, and cerebellum, consistent with human subclinical leukodystrophy

retina photoreceptor degeneration ( J:243745 )

• mild, slow progressing with 4 to 5 photoreceptor layers still present at 1 month of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
leukodystrophy		DOID:10579		J:243745