A neomycin resistance cassette replaced 2.1kb of the gene, including the 3' portion of exon 1 that encodes amino acids 1 - 233 of the protein. Northern blots of total RNA from cerebella of homozygous mutant mice showed no detectable transcripts of the targeted gene. Western blots of extracts of the cerebella of homozygous mutant mice showed no detectable protein. (J:21086)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Insertion, Intragenic deletion
--
1
4
20

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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