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Serine codon 87 (TCA) in exon 6 was changed to leucine (TTA) (c.C260T, p.S87L) using sgRNAs (targeting AGTGGACTCAGGAGTTCTTTTGG and TTTTGGCTGACTTCCCAAACTGG) and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation associated with Charcot-Marie-Tooth disease type 2Z (CMT2Z) and developmental delay, impaired growth, dysmorphic facies and axonal neuropathy (DIGFAN). (J:341847)
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
