This spontaneous A to G transition next to a single base pair (A) deletion in exon 12 results in a frameshift and premature stop codon at amino acid 540. (J:274099)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BLKS/J-Npc1spm/J
Spontaneous
Intragenic deletion, Nucleotide substitutions
Recessive
1
3
--

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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