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The human NGF coding sequence with an arginine to tryptophan substitution at amino acid 100 (R100W) and loxP flanked NeoR/KanR cassette and PGK promoter replaced the mouse Ngf coding sequence via homologous recombination. The C to T transition at position 661 resulting in the R100W mutation is seen in patients with Hereditary Sensory and Autonomic Neuropathy type 5. (J:282017)
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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References Literature
Title
PMID
Journal
Year
IF
