Exons 2 through 6 and their intervening introns were replaced with a neomycin resistance gene. The deleted region included sequence encoding the cytoplasmic tail involved in subcellular localization and regulation, the transmembrane domain, and the zinc binding site that is essential for catalytic activity. Western blot analysis indicated an absence of normal protein in homozygous mutant mice. (J:76570)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S/SvEv
Targeted
Insertion, Intragenic deletion
--
1
--
10

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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