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Nucleotide substitutions (c.5458C>T, c.5471G>A in NM_009347) result in the amino acid substitutions of lysine with phenylalanine at position 1820 (p.L1820F) and glycine with aspartic acid at position 1824 (p.G1824D). Cre-mediated recombination removed the loxP site flanked neomycin resistance gene cassette that was also inserted. (J:203482)
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
