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Based on NCBI transcript NM_019971_2, nucleotide substitutions were made that altered the following codons: K242T, K246R and R299S mutations have been introduced into exon 5, and K318R, N342S and A343T mutations have been introduced into exon 6. These mutations alter the mouse sequences to mimic the human amino acid sequence. (J:263231)
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
