Exon 23 was replaced with a version containing an A>C point mutation that changes aspartic acid codon 933 into an alanine codon (p.D993A). The loxP site flanked neomycin resistance gene cassette that was inserted into intron 22 was removed through subsequent cre-mediated recombination. (J:249307)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Single point
--
1
--
1

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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