Insertion of an ETn transposon disrupted sequences encoding D9, the ninth of twelve putative transmembrane domains. Northern analysis of skeletal muscle using a 5' rat Clcn1 cDNA probe detected aberrant size transcripts in homozygous mutant mice, but in the same tissues using a rat Clcn1 cDNA probe for sequences 3' to the D9 region, northern analysis detected no transcript. (J:752, J:24524)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
A2G
Spontaneous
Transposon insertion
Recessive
1
11
16

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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