Ebp^Td-ho
Spontaneous Allele Detail

Summary

• Symbol: Ebp^Td-ho
• Name: EBP cholestenol delta-isomerase; tattered Hokkaido
• MGI ID: MGI:1857338
• Synonyms: Td^ho
• Gene: Ebp Location: ChrX:8051568-8059751 bp, - strand Genetic Position: ChrX, 3.7 cM
• Alliance: Ebp^Td-ho page

Mutation origin

• Strain of Origin: (C57BL/6J x Mus spretus)F1 x C57BL/6J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: Two point mutations are responsible for the mutant phenotype: a T to C transition at coding nucleotide 395 and an A to T transversion at coding nucleotide 397. These mutations alter the corresponding amino acids 132 and 133 from leucine and serine to proline and cysteine (p.(Leu132_Ser133delinsProCys)). (J:70824)
• Inheritance: Dominant

Expression

In Mice Carrying this Mutation:	12 assay results
In Structures Affected by this Mutation:	2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Ebp Mutation: 14 strains or lines available

References

• Original: J:42173 Seo KW, et al., Chromosomal mapping and developmental study of Tattered-Hokkaido (Tdho). Mamm Genome. 1997 Aug;8(8):578-80
• All: 3 reference(s)