A nucleic acid base change was inserted into exon 74 causing a change in amino acid 3625 from Leucine to Aspartic Acid (L3625D). In addition, a floxed cassette composed of a neomycin gene and a testis-specific angiotensin-convertingenzyme promoter driving expression of cre recombinase was inserted in intron 76. Germline transmission therefore results in excision of the neomycin selection cassette and the cre recombinase. (J:195542)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Single point
--
1
26
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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