Capillary sequencing confirmed a T to A transversion at 57542264 bp on Chromosome 17 (v37) in the GenBank genomic region NC_000083 encoding Emr1. The mutation corresponds to cDNA residue 497 in exon 5 of 23 total exons in transcript ENSMUST00000004850 (NM_010130.4 corresponds to this Ensembl transcript) and residue 497 in exon 5 of 22 total exons in transcript ENSMUST00000086763. The mutation results in a leucine (L) to premature stop codon substitution at residue 166, and may cause nonsense mediated decay of the transcript. (J:195410)

Basic Information

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