An A to G change at position 2726 (c.2726C>G) resulting in a proline to arginine substitution at amino acid 909 (p.P909R) was introduced in exon 21 and an FRT-flanked neomycin selection cassette was also inserted. The neomycin selection cassette was removed via flp-mediated recombination. This mutation corresponds to the human c.2747C>G, p.P916R mutation causing congenital dyserythropoietic anemia type III. Mice were screened for the Crb1 c.3841delC mutation known as a cause of retinal dystrophy and do not contain this mutation. (J:321429)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6NTac
Targeted
Single point
--
1
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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