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A C1184T transition was inserted into exon 3 to create an A286V substitution in the eighth transmembrane domain. A neo was inserted into intron 2. Northern blot of mutant skin samples indicated that the presence of the neo caused impared splicing of exon 2 to exon 3, with an abnormal band compprising ~40 and 60% of the total transcript in hetero- and homozygous animals, respectively. (J:97104)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
