All Phenotypes Fktn<tm1Kcam> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Fktn^tm1Kcam
targeted mutation 1, Kevin P Campbell
MGI:5435571

Summary

4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fktn^tm1Kcam/Fktn^tm1Kcam	involves: 129S/SvEv	MGI:5435606
cn2	Fktn^tm1Kcam/Fktn^tm1Kcam Myf5^tm3(cre)Sor/Myf5⁺	involves: 129S/SvEv * 129S4/SvJaeSor	MGI:5435676
cn3	Fktn^tm1Kcam/Fktn^tm1Kcam Tg(CAG-cre/Esr1*)5Amc/?	involves: 129S/SvEv * C57BL/6 * CBA	MGI:5435674
cn4	Fktn^tm1Kcam/Fktn^tm1Kcam Tg(Ckmm-cre)5Khn/?	involves: 129S/SvEv * FVB	MGI:5435675

Allelic Composition	Fktn^tm1Kcam/Fktn^tm1Kcam
Genetic Background	involves: 129S/SvEv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fktn^tm1Kcam mutation (1 available); any Fktn mutation (44 available)

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

mortality/aging

embryonic lethality, incomplete penetrance ( J:187144 )

Allelic Composition	Fktn^tm1Kcam/Fktn^tm1Kcam Myf5^tm3(cre)Sor/Myf5⁺
Genetic Background	involves: 129S/SvEv * 129S4/SvJaeSor

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fktn^tm1Kcam mutation (1 available); any Fktn mutation (44 available)
Myf5^tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)

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

mortality/aging

premature death ( J:187144 )

• 11% die before 20 weeks of age even with special feeding

• remainder are dead or euthanized by 35 weeks

growth/size/body

decreased body weight ( J:187144 )

• significantly under weight

• combined gastrocnemius and soleus weight is low

muscle

dystrophic muscle ( J:187144 )

• moderate to severe dystrophic features in the iliopsoas muscle at 20 weeks

homeostasis/metabolism

increased circulating creatine kinase level ( J:187144 )

• elevated at 4 and 8 weeks

behavior/neurological

decreased grip strength ( J:187144 )

• forelimb grip strength is reduced

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fukuyama congenital muscular dystrophy		DOID:0050559	OMIM:253800	J:187144

Allelic Composition	Fktn^tm1Kcam/Fktn^tm1Kcam Tg(CAG-cre/Esr1*)5Amc/?
Genetic Background	involves: 129S/SvEv * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fktn^tm1Kcam mutation (1 available); any Fktn mutation (44 available)
Tg(CAG-cre/Esr1*)5Amc mutation (9 available)

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

muscle

dystrophic muscle ( J:187144 )

• iliopsoas muscle from mice treated with tamoxifen show indications of dystrophic disease

• variations in fiber size

• necrosis

• increase in centrally nucleated fibers

homeostasis/metabolism

increased circulating creatine kinase level ( J:187144 )

• levels begin to rise at 14 weeks of age and are significantly elevated at 16-20 weeks after tamoxifen treatment at 10 weeks of age

growth/size/body

growth/size/body region phenotype ( J:187144 )

N	• normal body weight at 4- 20 weeks of age after tamoxifen treatment

behavior/neurological

behavior/neurological phenotype ( J:187144 )

N	• normal forelimb grip strength at 4-20 weeks of age after tampxifen treatment • normal open field activity at 4-20 weeks of age after tampxifen treatment

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fukuyama congenital muscular dystrophy		DOID:0050559	OMIM:253800	J:187144

Allelic Composition	Fktn^tm1Kcam/Fktn^tm1Kcam Tg(Ckmm-cre)5Khn/?
Genetic Background	involves: 129S/SvEv * FVB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fktn^tm1Kcam mutation (1 available); any Fktn mutation (44 available)
Tg(Ckmm-cre)5Khn mutation (4 available)

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

muscle

dystrophic muscle ( J:187144 )

• signs of dystrophic disease at 12 weeks of age

• central nucleation in muscle fibers

• variable fiber size

• hypercontracted fibers

homeostasis/metabolism

increased circulating creatine kinase level ( J:187144 )

• elevated serum creatine kinase at 12 weeks of age

behavior/neurological

weakness ( J:187144 )

• reduced running times on a treadmill

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fukuyama congenital muscular dystrophy		DOID:0050559	OMIM:253800	J:187144

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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