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A hypomorphic allele was generated by disrupting the first coding exon (exon 2) with a neo cassette. While Western blot analysis showed an absence of normal protein (74 kDA), low levels of a 62 kDa protein were identified. Sequence analysis of mRNA showed excision of the targeted exon and identified potential start codons in exon 3. Biochemical assays showed no kinase activity in nonstimulated mutant fibroblasts and a 90% reduction in activity in stimulated fibroblasts relative to wild-type samples. (J:50696)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
