All Phenotypes Ccm2<tm1Mlkn> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Ccm2^tm1Mlkn
targeted mutation 1, Mark L Kahn
MGI:5439490

Summary

4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Ccm2^tm1Mlkn/Ccm2^tm1Mlkn Tg(Cdh5-cre/ERT2)1Rha/0	involves: 129	MGI:6279212
cn2	Ccm2^tm1Mlkn/Ccm2^tm1Mlkn Nfatc1^tm1.1(cre)Bz/Nfatc1⁺	involves: 129 * 129S1/Sv * 129X1/SvJ	MGI:6279289
cn3	Ccm2^tm1Mlkn/Ccm2^tm1Mlkn Map3k3^tm1.1Mlkn/Map3k3⁺ Tg(Cdh5-cre/ERT2)1Rha/0	involves: 129 * C57BL/6NTac	MGI:6279213
cn4	Ccm2l^tm1Mlkn/Ccm2l^tm1Mlkn Ccm2^tm1Mlkn/Ccm2⁺ Heg1^tm1Mlkn/Heg1^tm2.1Mlkn Tg(Tek-cre)1Ywa/0	involves: 129 * C57BL/6 * SJL	MGI:5439515

Allelic Composition	Ccm2^tm1Mlkn/Ccm2^tm1Mlkn Tg(Cdh5-cre/ERT2)1Rha/0
Genetic Background	involves: 129

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccm2^tm1Mlkn mutation (0 available); any Ccm2 mutation (47 available)
Tg(Cdh5-cre/ERT2)1Rha mutation (3 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

Allelic Composition	Ccm2^tm1Mlkn/Ccm2^tm1Mlkn Nfatc1^tm1.1(cre)Bz/Nfatc1⁺
Genetic Background	involves: 129 * 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccm2^tm1Mlkn mutation (0 available); any Ccm2 mutation (47 available)
Nfatc1^tm1.1(cre)Bz mutation (0 available); any Nfatc1 mutation (47 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:238897 )

• embryonic lethality at E14.5-E15.5

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

Allelic Composition	Ccm2^tm1Mlkn/Ccm2^tm1Mlkn Map3k3^tm1.1Mlkn/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:
Ccm2^tm1Mlkn mutation (0 available); any Ccm2 mutation (47 available)
Map3k3^tm1.1Mlkn mutation (0 available); any Map3k3 mutation (24 available)
Tg(Cdh5-cre/ERT2)1Rha mutation (3 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)

Allelic Composition	Ccm2l^tm1Mlkn/Ccm2l^tm1Mlkn Ccm2^tm1Mlkn/Ccm2⁺ Heg1^tm1Mlkn/Heg1^tm2.1Mlkn Tg(Tek-cre)1Ywa/0
Genetic Background	involves: 129 * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccm2l^tm1Mlkn mutation (0 available); any Ccm2l mutation (14 available)
Ccm2^tm1Mlkn mutation (0 available); any Ccm2 mutation (47 available)
Heg1^tm1Mlkn mutation (0 available); any Heg1 mutation (56 available)
Heg1^tm2.1Mlkn 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

Contributing Projects: 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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