The 5' UTR, start codon and first 26 amino acids in exon 2 was replaced with a neomycin resistance gene in reverse orientation. Two types of truncated transcript were detected in mutant testis or kidney of by RT-PCR, one having the undeleted region of exon 2 and full-length exon 3, and the other having exons 1 and 3, but not 2. Western blot failed to detect corresponding proteins for these transcripts, indicating that neither can be properly translated. (J:98434)

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
--
15

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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