3.2 kb of sequence encompassing all of exon 7 and most of exon 8 was replaced by a neomycin selection cassette inserted by homologous recombination. The deleted region encoded 112 amino acids involved in the bipartite nuclear localization signal, an aspartate rich consensus sequence putatively involved in the regulation of kinase activity, and the first three subdomains of the catalytic domain pertinent to ATP binding activity. Sequence analysis of an RT-PCR amplification product showed an aberrant transcript in which exon 6 spliced to exon 9. Both Western blot analysis and in situ hybridization indicated that a stable protein was not produced from the aberrant transcript. (J:78597)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
--
1
9
24

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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