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Exon 12 was replaced with one in which a point mutation (A to G) results in the amino acid substitution of glutamic acid for lysine at position 386 (K386E). This mutation disrupts synthetase activity while leaving dehydrogenase activity intact. Cre-mediated recombination removed a floxed neomycin resistance cassette inserted downstream of the modified exon 12. (J:199578)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
