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

Symbol:	Dsetm1Mmac
Name:	dermatan sulfate epimerase; targeted mutation 1, Marco Maccarana
MGI ID:	MGI:4366965
Gene:	Dse  Location: Chr10:34027389-34083711 bp, - strand  Genetic Position: Chr10, 18.85 cM
Alliance:	Dsetm1Mmac page

Germline Transmission:	Earliest citation of germline transmission: J:153897
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl+

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A portion of exon 2 downstream of the translation initiation codon was replaced with a neo cassette. The absence of protein expression was confirmed by western blot analysis on spleen extracts. (J:153897)

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

In Mice Carrying this Mutation:	8 assay results
In Structures Affected by this Mutation:	3 anatomical structure(s)

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 Dse Mutation:	104 strains or lines available

Original:	J:153897 Maccarana M, et al., Dermatan sulfate epimerase 1-deficient mice have reduced content and changed distribution of iduronic acids in dermatan sulfate and an altered collagen structure in skin. Mol Cell Biol. 2009 Oct;29(20):5517-28
All:	5 reference(s)