An aspartate to arginine mutation at position 743 (D743R) was introduced into exon 19 via homologous recombination in conjunction with a neo resistance cassette downstream of exon 20. The mutation is designed to inactivate the kinase domain by destabilizing the catalytic loop. Western blot analysis of homozygous mutant animals detected protein expression in testis but greatly reduced protein expression in liver. Kinase assays demonstrated complete absence of kinase activity in both testis and liver extracts from homozygous mutants. (J:67350)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Nucleotide substitutions
--
1
--
11

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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