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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Ccm2tm1Mlkn
targeted mutation 1, Mark L Kahn
MGI:5439490
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
 		Ccm2tm1Mlkn/Ccm2tm1Mlkn
Tg(Cdh5-cre/ERT2)1Rha/0 		involves: 129 MGI:6279212
cn2
 		Ccm2tm1Mlkn/Ccm2tm1Mlkn
Nfatc1tm1.1(cre)Bz/Nfatc1+ 		involves: 129 * 129S1/Sv * 129X1/SvJ MGI:6279289
cn3
 		Ccm2tm1Mlkn/Ccm2tm1Mlkn
Map3k3tm1.1Mlkn/Map3k3+
Tg(Cdh5-cre/ERT2)1Rha/0 		involves: 129 * C57BL/6NTac MGI:6279213
cn4
 		Ccm2ltm1Mlkn/Ccm2ltm1Mlkn
Ccm2tm1Mlkn/Ccm2+
Heg1tm1Mlkn/Heg1tm2.1Mlkn
Tg(Tek-cre)1Ywa/0 		involves: 129 * C57BL/6 * SJL MGI:5439515


Genotype
MGI:6279212
cn1
Allelic
Composition		 Ccm2tm1Mlkn/Ccm2tm1Mlkn
Tg(Cdh5-cre/ERT2)1Rha/0
Genetic
Background		 involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccm2tm1Mlkn mutation (0 available); any Ccm2 mutation (48 available)
Tg(Cdh5-cre/ERT2)1Rha mutation (4 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
abnormal brain vasculature morphology ( J:250906 )
• mice injected with tamoxifen at P1 exhibit cerebral cavernous malformation lesions by P13

nervous system
abnormal brain vasculature morphology ( J:250906 )
• mice injected with tamoxifen at P1 exhibit cerebral cavernous malformation lesions by P13

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
cerebral cavernous malformation 2 DOID:0060670 OMIM:603284
 J:250906




Genotype
MGI:6279289
cn2
Allelic
Composition		 Ccm2tm1Mlkn/Ccm2tm1Mlkn
Nfatc1tm1.1(cre)Bz/Nfatc1+
Genetic
Background		 involves: 129 * 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccm2tm1Mlkn mutation (0 available); any Ccm2 mutation (48 available)
Nfatc1tm1.1(cre)Bz mutation (0 available); any Nfatc1 mutation (49 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system
thin myocardium ( J:238897 )
• embryos exhibit a reduction in myocardial growth at E10.5
decreased cardiac jelly amount ( J:238897 )
• embryos exhibit a reduction in cardiac jelly at E10.5 as indicated by reduced matrix glycosaminoglycans and versican in the heart

muscle
thin myocardium ( J:238897 )
• embryos exhibit a reduction in myocardial growth at E10.5




Genotype
MGI:6279213
cn3
Allelic
Composition		 Ccm2tm1Mlkn/Ccm2tm1Mlkn
Map3k3tm1.1Mlkn/Map3k3+
Tg(Cdh5-cre/ERT2)1Rha/0
Genetic
Background		 involves: 129 * C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccm2tm1Mlkn mutation (0 available); any Ccm2 mutation (48 available)
Map3k3tm1.1Mlkn mutation (0 available); any Map3k3 mutation (27 available)
Tg(Cdh5-cre/ERT2)1Rha mutation (4 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
nervous system phenotype ( J:232707 , J:250906 )
N
• tamoxifen injected mice show full rescue of cerebral cavernous malformation lesion formation (J:232707)
• tamoxifen injected mice do not exhibit cerebral cavernous malformation lesions (J:250906)




Genotype
MGI:5439515
cn4
Allelic
Composition		 Ccm2ltm1Mlkn/Ccm2ltm1Mlkn
Ccm2tm1Mlkn/Ccm2+
Heg1tm1Mlkn/Heg1tm2.1Mlkn
Tg(Tek-cre)1Ywa/0
Genetic
Background		 involves: 129 * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccm2ltm1Mlkn mutation (0 available); any Ccm2l mutation (14 available)
Ccm2tm1Mlkn mutation (0 available); any Ccm2 mutation (48 available)
Heg1tm1Mlkn mutation (0 available); any Heg1 mutation (56 available)
Heg1tm2.1Mlkn mutation (0 available); any Heg1 mutation (56 available)
Tg(Tek-cre)1Ywa mutation (6 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
prenatal lethality, incomplete penetrance ( J:187714 )
• some survivors are detected




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory