A 5.1 kb genomic fragment encompassing exons 3 through 6 was replaced with a pgk-hygro selection cassette inserted by homologous recombination. The deleted region encoded the majority of the ATP-binding domain. The absence of normal transcript was confirmed by Northern blot analysis of homozygous mutant mice. No protein was detected by Western blot analysis or by immunohistochemical staining. (J:80519)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
--
1
2
43

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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