Exon 5, encoding a serine-rich domain, was replaced with a neomycin resistance gene, causing a frame shift that resulted in a premature stop codon. The synthesized truncated protein should contain only the first 77 amino acids, which encode the SAM domain and 23 novel residues due to the reading frame shift, however, Northern blots of heterozygous animals did not demonstrate such a truncated transcript. (J:96194)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd-Hprt1b-m3
Targeted
Insertion, Intragenic deletion
--
1
1
2

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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