A 200 bp region of the gene spanning amino acid 5 of exon 1 to part of intron 1 was replaced with a neomycin resistance cassette via homologous recombination. The gene targeting event specifically disrupts the beta 1 isoform of the gene product. The beta 2 and beta 3 isoforms, which do not utilize exon 1, remain intact. Western blot analysis verified the absence of beta 1 isoform in homozygous mutant animals. (J:31731)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129X1/SvJ
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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