ENU-induced T to C transition at base pair 44,869,169 (v38) on chromosome 11, or base pair 251,070 in the GenBank genomic region NC_000077 encoding Ebf1. The mutation corresponds to residue 711 in the mRNA sequence NM_007897 within exon 7 of 16 total exons. The mutation results in substitution of phenylalanine 211 for a serine (F211S) in all variants of the EBF1 protein. (J:265158)

Basic Information

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