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The mutation is a C-to-T transition at nucleotide position 5255 (Genbank Accession NM_010864), in exon 37 of 41 total exons, that changes the codon for glutamine 1610 to a stop codon (p.Q1610*). The protein lacks the C-terminal 243 amino acids, which encode part of the globular tail domain (GTD). (J:133120)
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
