This spontaneous mutation is a C-to-T transition in exon 39 that changes glutamine 1853 in repeat 18 to a stop codon (p.Q1853*). (J:157766)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(HRS/J x LAH)F1
Spontaneous
Single point
Recessive
1
6
1

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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