Efnb3^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Efnb3^m1Btlr
• Name: ephrin B3; mutation 1, Bruce Beutler
• MGI ID: MGI:5474282
• Synonyms: turtle
• Gene: Efnb3 Location: Chr11:69444918-69451031 bp, - strand Genetic Position: Chr11, 42.8 cM
• Alliance: Efnb3^m1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a T to C transition at base pair 69370785 (v37) on Chromosome 11 in the GenBank genomic region NC_000077 encoding Efnb3. The mutation corresponds to residue 332 in exon 2 of 5 total exons. The mutation results in a leucine (L) to proline (P) substitution at residue 111. (J:194586)
• Inheritance: Recessive

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Efnb3 Mutation: 11 strains or lines available

Notes

Phenotypic Similarity to Human Syndrome: Mirror Movement (J:194586)
Whole genome SOLiD sequencing identified 19 mutations in a stock mouse. Three G3 mice with the turtle mutation were genotyped at all 19 mutation sites and three mutations on chromosome 11 were homozygous in all three mice (see Mutagenetix).

References

• Original: J:194586 Beutler B, Direct Data Submission for turtle. MGI Direct Data Submission. 2013
• All: 1 reference(s)