Exons 7 and 8 were replaced by a neomycin selection cassette inserted by homologous recombination. The deleted region encoded the majority of the cytoplasmic region. A low level of production of a truncated protein was identified by expression analyses of brain tissue and peritoneal macrophages. Biochemical assays showed that the mutant protein did not undergo tyrosine phosphorylation nor did it associate with Hcph. (J:79592, J:79824)

Basic Information

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