A floxed neo was inserted upstream of a mutagenized exon 24 containing T1066Y, that encodes regions of the alpha 1 subunit. Crossing with deleter mice excised the floxed neo in the germ line, leaving the mutation in exon 24. Southern blot confirmed recombination and Western blot of brain and heart membranes showed no affects of the mutation on gene expression density. (J:91092)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Nucleotide substitutions
--
1
11
10

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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