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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hepacamtm1.2Tjj
targeted mutation 1.2, Thomas J Jentsch
MGI:5618262
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hepacamtm1.2Tjj/Hepacamtm1.2Tjj involves: C57BL/6NTac MGI:5646502
cx2
Clcn2tm1Tjj/Clcn2tm1Tjj
Hepacamtm1.2Tjj/Hepacamtm1.2Tjj
involves: 129S1/Sv * 129X1/SvJ * C57BL/6NTac MGI:5646505
cx3
Clcn2tm2.1Tjj/Clcn2tm2.1Tjj
Hepacamtm1.2Tjj/Hepacamtm1.2Tjj
involves: 129S1/Sv * 129X1/SvJ * C57BL/6NTac MGI:5646507


Genotype
MGI:5646502
hm1
Allelic
Composition
Hepacamtm1.2Tjj/Hepacamtm1.2Tjj
Genetic
Background
involves: C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hepacamtm1.2Tjj mutation (0 available); any Hepacam mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• myelin vacuolization that slowly progresses with age
• myelin vacuolization that slowly progresses with age
• most prominent in fibre tracts of the cerebellum
• vacuolization is largely restricted to the cerebellum even after 1 year of age
• leukodystrophy
• abnormal Cl- currents in Bergmann glia
• cell capacitance is increased in Bergmann glia
• current amplitudes normalized to cell capacitance are moderately smaller compared to controls in Bergmann glia
• membrane capacitance is increased




Genotype
MGI:5646505
cx2
Allelic
Composition
Clcn2tm1Tjj/Clcn2tm1Tjj
Hepacamtm1.2Tjj/Hepacamtm1.2Tjj
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clcn2tm1Tjj mutation (0 available); any Clcn2 mutation (40 available)
Hepacamtm1.2Tjj mutation (0 available); any Hepacam mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• myelin vacuolization is increased compared to either single homozygote




Genotype
MGI:5646507
cx3
Allelic
Composition
Clcn2tm2.1Tjj/Clcn2tm2.1Tjj
Hepacamtm1.2Tjj/Hepacamtm1.2Tjj
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clcn2tm2.1Tjj mutation (0 available); any Clcn2 mutation (40 available)
Hepacamtm1.2Tjj mutation (0 available); any Hepacam mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• myelin vacuolization is increased compared to either single homozygote





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory