Insertion of a neomycin resistance cassette into exon 13 disrupted the gene. RT-PCR studies of cultured tail cells using primers from exon 12 and exon 14 did not detect wild-type transcript in homozygous mutant mice. Enzyme activity assays of organs and cultured cells detected nearly no activity in homozygous mutant mice. Western blot analysis of several tissues using rabbit anti-human antibodies did not detect immunoprecipitated protein in homozygous mutant mice. (J:45386)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion
--
1
11
8

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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