A loxP flanked neomycin resistance cassette replaced most of exon 4 and exon 5. In the process a stop codon was generated in exon 4 after the codon for amino acid 83. Absence of the 1.2kb mRNA for the major isoform of this gene was established by Northern blot analysis. Lack of protein product was confirmed by Western blot analysis. However, a truncated protein may be produced. (J:85201)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
Insertion, Intragenic deletion
--
1
--
22

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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