A point mutation was introduced into exon 4 resulting in a D164A mutation and a floxed hygromycin cassette was inserted via homologous recombination. In a second recombination event, a premature stop codon followed by a frameshift mutation were introduced at amino acid position 673 in exon 13 and this exon was fused to exon 15. (J:178971)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Intragenic deletion, Single point
--
1
22
13

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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