ENU mutagenesis induced a G to C point mutation at position 940 on cDNA (ENSMUST00000035199) in exon 10 that results in the amino acid substitution of Arginine to Proline at position 263 (R263P) within the second RNA recognition motif (RRM2). Genetic complementation data suggest that the R263P mutation results in a loss-of-function allele. (J:104190, J:223049)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Chemically induced
Single point
Recessive
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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