Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

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

Strain of Origin:

(C57BL/6J x Mus spretus)F1 x C57BL/6J

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

View phenotypes and curated references for all genotypes (concatenated display).

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

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

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)