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This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to G substitution at coding nucleotide 6739 in exon 11 of the cDNA (c.6739T>G, NM_172862). This changes the phenylanaline residue to valine at position 2247 of the encoded protein (p.F2247V). (J:175213)
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
