An engineered A to T mutation in exon 1 (c.65A>T) results in a lysine to methionine substitution at amino acid 22 in the encoded peptide (p.K22M). A floxed puromyin resistance gene cassette was inserted upstream of exon 1. The puro cassette was excised by crossing mutant animals to the cre-expressing line Tg(CMV-cre)1Nagy. (J:78820)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S7/SvEvBrd-Hprt1b-m2
Targeted
Nucleotide substitutions
--
1
2
7

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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