Most of exon 1, which encodes amino acids 1-89, was replaced with a neomycin resistance gene via homologous recombination. RNase protection assays using whole brain preparations from homozygous mutant animals revealed a greater than 85% reduction in gene expression compared to wild-type. Protein expression was barely detectable as determined by Western blot analysis. (J:76457)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Intragenic deletion
--
1
21
9

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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