Phenotypes associated with this allele

• Allele Symbol: Clcn7^tm1.1Lex
• Allele Name: targeted mutation 1.1, Lexicon Genetics
• Allele ID: MGI:5431240
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Clcn7^tm1.1Lex/Clcn7^tm1.1Lex	involves: 129S5/SvEvBrd * C57BL/6J	MGI:5431337

Genotype
MGI:5431337

hm1

• Allelic Composition: Clcn7^tm1.1Lex/Clcn7^tm1.1Lex
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

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

nervous system

tonic seizures ( J:186049 )

• in terminal stages

astrocytosis ( J:186049 )

• at 6 weeks

microgliosis ( J:186049 )

• at 6 weeks

abnormal cerebral cortex morphology ( J:186049 )

• laminar neuronal necrosis at 3 weeks of age

abnormal neocortex morphology ( J:186049 )

• neuronal necrosis is accompanied by neuronophagia at 6 weeks

• loss of cortical layers IV and V with reduced thickness in other cell layers of the neocortex terminally

abnormal stratification in cerebral cortex ( J:186049 )

• loss of cortical layers IV and V with reduced thickness in other cell layers of the neocortex terminally

abnormal neuron morphology ( J:186049 )

• mice exhibit intraneuronal accumulation of autofluorescent

cerebral cortex pyramidal cell degeneration ( J:186049 )

• initially focused in the CA3 region

• progresses to include the CA2 region

• however, CA1 is largely spared

absent photoreceptor inner segment ( J:186049 )

absent photoreceptor outer segment ( J:186049 )

neurodegeneration ( J:186049 )

• focal areas of neuronal degeneration in the hippocampus at 3 weeks

vision/eye

vision/eye phenotype ( J:186049 )

N • the ganglion cell layer exhibits normal cellularity

absent photoreceptor inner segment ( J:186049 )

absent photoreceptor outer segment ( J:186049 )

abnormal retina pigment epithelium morphology ( J:186049 )

• mildly hypertrophic cells

thin retina inner nuclear layer ( J:186049 )

• minimal thinning

thin retina outer nuclear layer ( J:186049 )

retina degeneration ( J:186049 )

behavior/neurological

tremors ( J:186049 )

• mild at 3 weeks of age

abnormal posture ( J:186049 )

• stiffness at 3 weeks of age

tonic seizures ( J:186049 )

• in terminal stages

respiratory system

respiratory failure ( J:186049 )

• in terminal stages

skeleton

skeleton phenotype ( J:186049 )

N • mice exhibit normal bone formation

cellular

astrocytosis ( J:186049 )

• at 6 weeks

microgliosis ( J:186049 )

• at 6 weeks

lysosomal protein accumulation ( J:186049 )

• mice exhibit intraneuronal accumulation of autofluorescent

growth/size/body

postnatal growth retardation ( J:186049 )

• at 4 weeks

hematopoietic system

microgliosis ( J:186049 )

• at 6 weeks

immune system

microgliosis ( J:186049 )

• at 6 weeks

pigmentation

abnormal retina pigment epithelium morphology ( J:186049 )

• mildly hypertrophic cells