A loxP site flanked neomycin resistance gene was inserted into intron 8 and an A-to-T point mutation was created at position 1366 (GenBank M24119) in exon 9 causing a D-to-V amino acid substitution at residue 427 (409 in mature protein) (p.D427V). The neo cassette was then removed through subsequent Cre-mediated recombination. (J:86334)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S5/SvEvBrd
Targeted
Insertion, Single point
--
1
--
17

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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