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Exon 7 was replaced with a frt flanked neo cassette with a 5' loxP site and a modified exon 7 followed by a 3' loxP site. The modified exon 7 contains nucleotide substitutions that result in two amino acid substitutions, namely, asparagine for threonine at position 302 (T302N), and serine for asparagine at position 324 (N324S). These amino acid substitutions mimic the amino acids found in humans. Southern blot analysis revealed a duplication/rearrangement within the 3' portion of the gene. (J:150425)
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
