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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Clcn2nmf240
neuroscience mutagenesis facility, 240
MGI:3056299
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Clcn2nmf240/Clcn2nmf240 C57BL/6J-Clcn2nmf240/J MGI:3056317


Genotype
MGI:3056317
hm1
Allelic
Composition
Clcn2nmf240/Clcn2nmf240
Genetic
Background
C57BL/6J-Clcn2nmf240/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clcn2nmf240 mutation (1 available); any Clcn2 mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• even as early as 6 weeks of age homozygotes are azoospermic with severe degradation of spermatogenesis and are devoid of spermatocytes, spermatids, and spermatozoa with elongated tails
• by 20 weeks of age homozygotes have only a few spermatogonial stem cells, although Sertoli cells remain
• standard pathological examination of the testes of two mutant mice aged 224 days revealed aspermiogenesis

vision/eye
• at 10 days of age the apical processes of the retinal pigment epithelium are elongated and some ezrin staining of the basal retinal pigment epithelium is found indicative of a disruption in cell polarity
• evident by 2 weeks of age and progressing such that by 3 weeks of age the outer nuclear layer is only one to two nuclei in thickness
• disorganized and shortened by 2 weeks of age and not visible by 3 weeks of age
• routine ophthalmoscopic examination of 8 week-old homozygous mice revealed mottling of the retina and atrophy of the retinal vasculature (J:82238)
• standard pathological examination of two mutant mice aged 224 days revealed severe bilateral retinal degeneration (J:82238)
• at 3 weeks of age the retina has a grainy appearance and by 12 weeks of age this progresses into large white patches distributed across the entire retina (J:160207)
• although the retina is normal at 10 days of age, by 14 days of age the outer nuclear layer is reduced in thickness with several pyknotic nuclei and the photoreceptor outer segments are disorganized and shortened, and by 3 weeks of age the photoreceptor layer is reduced to one to two layers of cells with outer segments not visible (J:160207)
• both dark and light adapted flash electroretinograms show reduced amplitude responses as early as 14 days of age progressing to near zero by 26 days of age

nervous system
• progressive leukoencephalopathy results in vacuoles in the white matter tracts and cerebellum evident by 7 months of age and more severe at 18 months of age although no resulting overt behavioral expression is found
• disorganized and shortened by 2 weeks of age and not visible by 3 weeks of age
• standard pathological examination of two mutant mice aged 224 days revealed status spongiosus of the brain and eosinophilic inclusions in the brainstem and spinal cord
• standard pathological examination of two mutant mice aged 224 days revealed dystrophic axons in the brainstem and spinal cord

pigmentation
• at 10 days of age the apical processes of the retinal pigment epithelium are elongated and some ezrin staining of the basal retinal pigment epithelium is found indicative of a disruption in cell polarity

cellular
• even as early as 6 weeks of age homozygotes are azoospermic with severe degradation of spermatogenesis and are devoid of spermatocytes, spermatids, and spermatozoa with elongated tails
• by 20 weeks of age homozygotes have only a few spermatogonial stem cells, although Sertoli cells remain





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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
11/12/2024
MGI 6.24
The Jackson Laboratory