The transgene insert contains the following elements: the human interstitial retinol binding protein 3 promoter, the mouse Prph cDNA with two mutations (p.R172W and p.P341Q), and SV40 poly(A) signal sequence. The Arg172Trp mutation mimics the mutation found in some human patients presenting with retinal degeneration. The Pro341Gln mutation was made so the peptide can be identified by monoclonal antibody 3B6. (J:92815)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
CD-1
--
Insertion
--
1
--
6

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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