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Serine codon 619 (TCG) in exon 16 was changed to leucine (CTG) (p.S619L NM_001039520.2:c.1855_1856delTCinsCT) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 15. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation is found in some autosomal dominant centronuclear myopathy (ADCNM) patients. (J:329580)
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
