This hypomorphic allele was generated by nucleotide substitution in exon 2 that results in the amino acid substitution of alanine for serine at positions 2, 4, 7, 12 and 13(S2A/S4A/S7A/S12A/S13A). Cre-mediated recombination removed the floxed neo cassette inserted upstream of the translation start site in exon 2. (J:180517)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129
Targeted
Insertion, Nucleotide substitutions
--
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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