Exons 3 through 5 were replaced by a neomycin selection cassette. The deleted region encompassed 429 bp encoding the second transmembrane domain and a portion of the pore region. While normal transcript was undetected by semi-quantitative RT-PCR analysis, low levels of an aberrant transcript in which exon 2 spliced to exon 6 were observed in homozygous mutant embryos. (J:62797)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
--
1
14
3

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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