A loxP site was inserted downstream of exon 9, exon 11 was replaced with one containing nucleotide substitutions that result in the amino acid substitution of glutamic acid for tyrosine at position 672 (Y672E), and exon 12 was replaced with a modified exon 12 in which nucleotide substitutions result in the amino acid substitutions alanine for aspartic acid and methinone for leucine. The mutations in exon 12 abolish antibody recognition of the C-terminus by converting it to resemble the C-terminus of Clcn3. This provided a tag to differentiate the modified protein from wild-type. An FRT flanked neo cassette inserted downstream of the modified exon 11 was removed by flp mediated recombination. (J:164474)

Basic Information

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