A spontaneous mutation inserted two CA repeats in intron 53 that results in decreased transcript stability. Additional mutations include: insertion of two GA repeats within intron 18, insertion of two T residues within intron 57 and a putative site within intron 52 of an TA repeat region that was intractable to sequencing. RT-PCR confirmed the absence of transcript expression in the sublingual gland.

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
NFS/N
Spontaneous
Insertion
Recessive
1
--
18

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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