Exons 4 was replaced with a modified exon 4 in which nucleotide substitutions (T to C and A to G) result in the amino acid substitutions of arginine for a premature stop codon and glutamine at positions 253 and 266 (Stop 253R and Q266R). Exon 5 was replaced with a modified exon 5 in which nucleotide substitutions (A to G and T to C) result in the amino acid substitutions of alanine and proline for threonine and serine at positions 299 and 336 (T299A and S336P). A floxed neo cassette inserted downstream of the modified exon 4 was removed by cre-mediated recombination. (J:175365)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
129X1/SvJ
Targeted
Insertion, Nucleotide substitutions
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--
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3

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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