CRISPR/Cas9 technology generated a valine to methionine substitution at amino acid 98 (p.V98M). V98M is a rare missense variant identified in two brothers afflicted with a progressive neuropathy syndrome. (J:335315)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6J x CBA/J)F2
Endonuclease-mediated
Single point
--
1
--
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

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PMID
Journal
Year
IF
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