Exon 12 was replaced with one containing nucleotide substitutions that result in the amino acid substitutions of alanine for aspartic acid and methionine for lysine. An frt flanked neo cassette inserted upstream of exon 12 was removed by flp mediated recombination. These substitutions convert the C-terminus to that of Clcn3. (J:160701)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Single point
--
1
5
1

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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