A neomycin resistance cassette replaced exon 2, which encodes 63 amino acids of the intracellular domain and the entire transmembrane domain. Northern blot analysis revealed that a transcript lacking exon 2 sequences is produced from this allele, but no protein was detected in skeletal muscle membrane enriched preparations of homozygous mice by western blot analysis. (J:57107)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Intragenic deletion
--
1
6
8

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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