The targeting vector inserts a missense substitution changing a methionine to a valine at amino acid position 1592 (M1592V) in exon 24 and a loxP flanked neo cassette in intron 23. The neo cassette is removed by transient infection with a Cre recombinase expressing plasmid leaving a single loxP site downstream of exon 23. (J:135831, J:153497)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S4/SvJae
Targeted
Insertion, Nucleotide substitutions
Recessive
1
13
6

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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