Phenotypes associated with this allele

• Allele Symbol: Clcn2^tm1Mlv
• Allele Name: targeted mutation 1, James E Melvin
• Allele ID: MGI:2183262
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Clcn2^tm1Mlv/Clcn2^tm1Mlv	involves: C57BL/6	MGI:3850853

Genotype
MGI:3850853

hm1

• Allelic Composition: Clcn2^tm1Mlv/Clcn2^tm1Mlv
• Genetic Background: involves: C57BL/6

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

Retinal degeneration in Clcn2^tm1Mlv/Clcn2^tm1Mlv mice

reproductive system

abnormal male germ cell morphology ( J:77673 )

♂ • the germ cell layer of the testes is missing

azoospermia ( J:77673 )

♂ • mice lack mature spermatozoa

abnormal testis morphology ( J:77673 )

♂ • the germ cell layer of the testes is missing

abnormal Sertoli cell morphology ( J:77673 )

♂ • abnormal Sertoli cells are prominent and widespread compared to in wild-type mice

increased Leydig cell number ( J:77673 )

♂

vision/eye

retina photoreceptor degeneration ( J:77673 )

retina outer nuclear layer degeneration ( J:77673 )

retina degeneration ( J:77673 )

• postnatal

endocrine/exocrine glands

abnormal salivary gland physiology ( J:77673 )

• parotid acinar exhibit a 10-fold reduction in chloride ion currents compared with wild-type mice and exhibit no rectification

• however, mice exhibit normal calcium-sensitive chloride ion channel function, regulatory volume decrease, and composition and flow of saliva

abnormal testis morphology ( J:77673 )

♂ • the germ cell layer of the testes is missing

abnormal Sertoli cell morphology ( J:77673 )

♂ • abnormal Sertoli cells are prominent and widespread compared to in wild-type mice

increased Leydig cell number ( J:77673 )

♂

nervous system

retina photoreceptor degeneration ( J:77673 )

digestive/alimentary system

abnormal salivary gland physiology ( J:77673 )

• parotid acinar exhibit a 10-fold reduction in chloride ion currents compared with wild-type mice and exhibit no rectification

• however, mice exhibit normal calcium-sensitive chloride ion channel function, regulatory volume decrease, and composition and flow of saliva

cellular

abnormal male germ cell morphology ( J:77673 )

♂ • the germ cell layer of the testes is missing

azoospermia ( J:77673 )

♂ • mice lack mature spermatozoa