A neomycin cassette was inserted into the first coding exon of the gene which contains 5' untranslated sequence and the sequence for the first 31 amino acids. A lack of protein from the cerebellum of homozygous mutant animals was demonstrated by Western analysis. Additional binding studies and Ca2+ release assays were incorporated to demonstrate the loss of function for this allele. (J:30633)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S4/SvJae
Targeted
Insertion
--
1
4
26

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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