A point mutation resulting in an aspartic acid to alanine substition at residue 400 (D400A) was introduced at the endogenous locus by homologous recombination of a targeting vector also carrying an intronic neo cassette. The missense mutation was introduced into sequence encoding the proofreading domain. RT-PCR analysis of heterozygous ES cells showed comparable levels of wild-type and mutant transcript. Western blot analysis of fibroblasts derived from mutant mice further indicated normal levels of expression. (J:80306)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Nucleotide substitutions
--
1
5
3

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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