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EN
This spontaneous mutation results in a C-to-T point mutation (chr5:g.134163662C>T (GRCm38)) (NM_033572.2:c.922G>A) that produces a glutamic acid to lysine substitution (p.E307K) in RCC1-like domain 5 (RLD5) and splicing out of a 164-bpdownstream exon, with consequent in-frame deletion of RLD 6. (J:254859)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
