A nucleotide change T to A at position 2264, resulting in a valine to glutamate change at amino acid 755, was introduced in exon 17. A neomycin resistance gene flanked by loxP sites was also introduced into intron 17. Cre-mediated recombination in the ES cells removed the selection cassette. (J:257856)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129S6/SvEvTac x C57BL/6NCrl)F1
Targeted
Insertion, Single point
--
1
4
1

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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