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EN
The Pretty2 mutation corresponds to an A-to-T transversion at nucleotide position 2388 of the gene (Genbank: NM_021099), in the 17th of 21 total exons, resulting in replacement of isoleucine by phenylalanine at amino acid position 787 (I787F) in the C-lobe of the protein, immediately preceding the kinase catalytic loop. (J:133613)
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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References Literature
Title
PMID
Journal
Year
IF
