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The first of 6 exons common to isoforms A, B, and C was replaced with a floxed neo cassette inserted by homologous recombination. The deleted exon encodes the first transmembrane domain and a portion of an extracellular loop. While a shortened C transcript was identified by Northern blot analysis, A and B transcripts were undetected in homozygous mutant mice. RT-PCR and sequence analysis showed the aberrant transcript to lack the neo cassette (as well as the 66 codons it had replaced) and to contain a frameshift mutation after the first 11 codons. (J:83192)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
