The exons 3-6 were replaced with PGK-neo cassette by targeted recombination. The resulting allele, when exon 2 is spliced onto exon 7, disrupt the open reading frame, introducing a premature stop codon at the beginning of exon 7. Western blot analysis using a C-terminal specific antibody onto whole cerebellar homogenates confirmed absence of full-length protein. However, a low level of a form of gene product with a reduced function resulting from exon1 spliced onto exon 7 that lacks most of the actin-binding domain encoded by exons 2-6 was expressed. This is a hypomorphic allele. (J:159622)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
--
1
2
6

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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