Exon 9 was replaced with a modified one in which nucleotide substitutions result in silent mutations and the amino acid substitution of alanine for leucine at position 423 (L423A). Exon 10 was replaced with one in which nucleotide substitutions result in a silent mutation and the amino acid substitution of alanine for valine at position 429 (V429A) and phenylalanine for tyrosine at position 463 (Y463F). Exon 18 was replaced with one in which nucleotide substitutions result in the amino acid substitution of phenylalanine for tyrosine at positions 766 and 776 (Y766F, Y776F). Cre-mediated recombination removed the floxed neomycin resistance cassette inserted in intron 9. (J:226497)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S4/SvJaeSor
Targeted
Insertion, Nucleotide substitutions
--
1
25
2

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

References Literature

Title
PMID
Journal
Year
IF
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