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Mmp12tm1Sds
Targeted Allele Detail

Nomenclature
Symbol: Mmp12tm1Sds
Name: matrix metallopeptidase 12; targeted mutation 1, Steven D Shapiro
MGI ID: MGI:2386174
Synonyms: MME-, MMP-12-, Mmp12-
Gene: Mmp12   Location: Chr9:7344381-7369499 bp, + strand    Genetic Position: Chr9, 1.0 cM
Mutation
origin
Germline Transmission: Earliest citation of germline transmission: J:32902
Parent Cell Line: RW-4 (ES Cell)
Strain of Origin: 129X1/SvJ
Mutation
description
Allele Type: Targeted (knock-out)
Mutations: Insertion, Intragenic deletion
  The gene was disrupted by replacement of the majority of exon 2 with a PGK-neo cassette via homologous recombination. Gene transcription and protein production was absent in homozygous mutant animals as demonstrated by Northern and Western blot analysis of peritoneal macrophages and peritoneal fluid. (J:32902)
Find Mice (IMSR) 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 Mmp12 Mutation: 1 strain or line available
Phenotype
summary
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Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

      Key:  
hm homozygous ht heterozygous
cn conditional genotype  cx complex: > 1 genome feature
tg involves transgenes ot other: hemizygous, indeterminate,...
N normal phenotype expected model not found
Affected SystemsGenotypes:
 
hm1
 
hm2
 
cx3
 
cx4
 
cx5
 
cx6
  
cardiovascular system          
     
  
homeostasis/metabolism          
N   
  
immune system          
   
  
nervous system          
    
  
reproductive system          
     
  
respiratory system          
    
  
skin/coat/nails          
     
 
  
Disease Models          
     
Phenotypic
data by
genotype
Phenotypic Data by Genotype

(show or hide all phenotypic details)

GenotypeAllelic CompositionGenetic Background
  
 hm1   
Mmp12tm1Sds/Mmp12tm1Sds B6.129X1-Mmp12tm1Sds
  
 hm2   
Mmp12tm1Sds/Mmp12tm1Sds involves: 129X1/SvJ
  
 cx3   
Mmp12tm1Sds/Mmp12tm1Sds
Timp1tm1Pds/Timp1tm1Pds
either: (involves: 129S4/SvJae) or (involves: C57BL/6)
  
 cx4   
Itgb6tm1Des/Itgb6tm1Des
Mmp12tm1Sds/Mmp12tm1Sds
involves: 129/Sv * 129T2/SvEms
  
 cx5   
Mmp12tm1Sds/Mmp12tm1Sds
Sftpdtm1Jhf/Sftpdtm1Jhf
involves: 129P2/OlaHsd * 129X1/SvJ * Black Swiss * FVB/N
  
 cx6   
Mmp12tm1Sds/Mmp12tm1Sds
Mmp9tm1Tvu/Mmp9tm1Tvu
involves: 129S6/SvEvTac * 129X1/SvJ
Disease
models
Mouse Models
of Human Disease
NoteGenotypeRef(s)
 
Allelic Composition
Genetic Background
No similarity to expected human disease phenotype was found.1
NOT Emphysema, Hereditary Pulmonary
OMIM ID: 130700
 
 
cx4
Itgb6tm1Des/Itgb6tm1Des
Mmp12tm1Sds/Mmp12tm1Sds
involves: 129/Sv * 129T2/SvEmsJ:89578
1One or more human genes may be associated with the human disease. The mouse genotype may involve mutations in orthologous genes, but the phenotype did not resemble the human disease.
References
Original: J:32902 Shipley JM et al., "Metalloelastase is required for macrophage-mediated proteolysis and matrix invasion in mice." Proc Natl Acad Sci U S A 1996 Apr 30;93(9):3942-6
All: 32 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/20/2009
MGI_4.31
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