This mutation, which was discovered in an ENU mutagenesis screen for defective macrophage function, corresponds to an A-to-G transition at nucleotide position 1776 of the gene, in the 14th of 22 exons, that results in replacement of tyrosine by cysteine at amino acid position 579 of the protein. Macrophages from thioglycolate-elicited peritoneal exudates of homozygous mutant mice exhibit greatly reduced surface expression of the EMR1 (F4/80) protein, and heterozygous macrophages exhibit surface EMR1 expression intermediate between that of wild-type and homozygous cells. (J:135219)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
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1
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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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