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

Symbol:	Emilin1tm1Gmb
Name:	elastin microfibril interfacer 1; targeted mutation 1, Giorgio M Bressan
MGI ID:	MGI:3028845
Synonyms:	Emi1-
Gene:	Emilin1  Location: Chr5:31070746-31078621 bp, + strand  Genetic Position: Chr5, 16.9 cM
Alliance:	Emilin1tm1Gmb page

Germline Transmission:	Earliest citation of germline transmission: J:87574
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl+

Allele Type:    Targeted (Null/knockout, Reporter) Mutation:    Insertion   Mutation details: A lacZ-PGK-neomycin cassette was inserted into exon 1. Northern blot and RT-PCR analysis demonstrated absence of mRNA. Protein product was undetectable in tissue sections by immunofluorescence. (J:87574)

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

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 Emilin1 Mutation:	43 strains or lines available

Original:	J:87574 Zanetti M, et al., EMILIN-1 deficiency induces elastogenesis and vascular cell defects. Mol Cell Biol. 2004 Jan;24(2):638-50
All:	12 reference(s)