The mutation is a deletion of 1 guanosine residue from a run of 4 consecutive guanosines beginning at genomic nucleotide 1888. This mutation is predicted to cause a frameshift mutation resulting in a stop codon 10 codons downstream from the deletion. The predicted protein would lack critical amino acids for biological activity. (J:2964)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
STOCK Atrnmg Edardl-J
Spontaneous
Intragenic deletion
Recessive
1
7
9

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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