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

Symbol:	Mfge8tm1Shur
Name:	milk fat globule EGF and factor V/VIII domain containing; targeted mutation 1, Barry D Shur
MGI ID:	MGI:2675967
Synonyms:	SED1-null
Gene:	Mfge8  Location: Chr7:78783516-78798808 bp, - strand  Genetic Position: Chr7, 44.9 cM
Alliance:	Mfge8tm1Shur page

Germline Transmission:	Earliest citation of germline transmission: J:85225
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A single loxP site remained in place of exon 1 after homologous recombination of flanking loxP sites and subsequent cre-mediated excision. Transcript was undetected in homozygous mutant mice by RT-PCR analysis of testicular cDNA using primers spanning exons 2 and 3 and exons 7 and 8. The absence of protein was indicated by Western blot analysis and by indirect immunofluorescence of live sperm. (J:85225)

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

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: 0 strains available      Cell Lines: 0 lines available
Carrying any Mfge8 Mutation:	23 strains or lines available

Original:	J:85225 Ensslin MA, et al., Identification of mouse sperm SED1, a bimotif EGF repeat and discoidin-domain protein involved in sperm-egg binding. Cell. 2003 Aug 22;114(4):405-17
All:	6 reference(s)