All Phenotypes Myf5<tm3(cre)Sor> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Myf5^tm3(cre)Sor
targeted mutation 3, Philippe Soriano
MGI:2135565

Summary

32 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Myf5^tm3(cre)Sor/Myf5^tm3(cre)Sor	involves: 129S4/SvJae * C57BL/6J	MGI:3713924
cn2	Crppa^em2Mbp/Crppa^em2Mbp Myf5^tm3(cre)Sor/Myf5⁺	B6.Cg-Myf5^tm3(cre)Sor Crppa^em2Mbp	MGI:7279103
cn3	Gt(ROSA)26Sor^tm1(DTA)Lky/Gt(ROSA)26Sor⁺ Myf5^tm3(cre)Sor/Myf5⁺	involves: 129P2/OlaHsd * 129S4/SvJaeSor	MGI:7345612
cn4	Ehmt1^tm1.1Tara/Ehmt1^tm1.1Tara Myf5^tm3(cre)Sor/Myf5⁺	involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6	MGI:6105943
cn5	Elmo1^tm1.2Ravi/Elmo1^tm1.2Ravi Elmo2^{tm1c(EUCOMM)Hmgu}/Elmo2^{tm1c(EUCOMM)Hmgu} Myf5^tm3(cre)Sor/Myf5⁺	involves: 129P2/OlaHsd * C57BL/6N	MGI:7545138
cn6	Dlk1^tm1.1Jvs/Dlk1⁺ Myf5^tm3(cre)Sor/Myf5⁺	involves: 129P2/SvPas * 129S4/SvJaeSor * C57BL/6 * FVB/N	MGI:4879116
cn7	Prox1^tm2Gco/Prox1^tm2Gco Myf5^tm3(cre)Sor/Myf5⁺	involves: 129S1/Sv * 129S4/SvJae * C57BL/6J	MGI:5907124
cn8	Gdnf^tm1.1Neas/Gdnf^tm1.1Neas Myf5^tm3(cre)Sor/Myf5⁺	involves: 129S1/Sv * 129S4/SvJaeSor * C57BL/6 * SJL	MGI:4456171
cn9	Myf5^tm3(cre)Sor/Myf5⁺ Ntf3^tm2Jae/Ntf3^tm2Jae	involves: 129S1/Sv * C57BL/6	MGI:3843812
cn10	Erbb2^tm1Haus/Erbb2^tm1Klee Gfra1^tm3Jmi/Gfra1⁺ Myf5^tm3(cre)Sor/Myf5⁺	involves: 129S4/SvJae * 129S4/SvJaeSor * 129X1/SvJ	MGI:4456175
cn11	Erbb2^tm1Haus/Erbb2^tm1Klee Myf5^tm3(cre)Sor/Myf5⁺	involves: 129S4/SvJae * C57BL/6	MGI:3843807
cn12	Lin28a^tm1Gqda/Lin28a^tm1Gqda Myf5^tm3(cre)Sor/Myf5⁺	involves: 129S4/SvJae * C57BL/6 * CD-1	MGI:5294786
cn13	Myf5^tm3(cre)Sor/Myf5⁺ Tg(CAG-Nog)1Ych/0	involves: 129S4/SvJaeSor	MGI:7345607
cn14	Pax7^tm1.1Thbr/Pax7^tm1.1Thbr Myf5^tm3(cre)Sor/Myf5⁺	involves: 129S4/SvJaeSor	MGI:5548075
cn15	Stat5a^tm2Mam/Stat5a^tm2Mam Stat5b^tm1Mam/Stat5b^tm1Mam Myf5^tm3(cre)Sor/Myf5⁺	involves: 129S4/SvJaeSor * 129S6/SvEvTac	MGI:4840214
cn16	Myf5^tm3(cre)Sor/Myf5⁺ Stat5b^tm1Mam/Stat5b^tm1Mam	involves: 129S4/SvJaeSor * 129S6/SvEvTac	MGI:4840215
cn17	Myf5^tm3(cre)Sor/Myf5⁺ Stat5b^tm1Mam/Stat5b^tm1Mam Tg(Alb1-cre)1Dlr/0	involves: 129S4/SvJaeSor * 129S6/SvEvTac * FVB/N	MGI:4840224
cn18	Myf5^tm3(cre)Sor/Myf5⁺ Stat5a^tm2Mam/Stat5a^tm2Mam Stat5b^tm1Mam/Stat5b^tm1Mam Tg(Alb1-cre)1Dlr/0	involves: 129S4/SvJaeSor * 129S6/SvEvTac * FVB/N	MGI:4840222
cn19	Myf5^tm3(cre)Sor/Myf5⁺ Sik1^tm1.1Berd/Sik1^tm1.1Berd	involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6J * SJL	MGI:5805512
cn20	Myf5^tm3(cre)Sor/Myf5⁺ Tg(ACTB-Edn1)721Clou/0	involves: 129S4/SvJaeSor * C57BL/6	MGI:5754730
cn21	Fktn^tm3.1Ttd/Fktn^tm3.1Ttd Myf5^tm3(cre)Sor/Myf5⁺	involves: 129S4/SvJaeSor * C57BL/6	MGI:5514353
cn22	Myf5^tm3(cre)Sor/Myf5⁺ Tg(ACTB-Edn1)1416Clou/0	involves: 129S4/SvJaeSor * C57BL/6	MGI:5754733
cn23	Myf5^tm3(cre)Sor/Myf5⁺ Tg(ACTB-Edn1)1408Clou/0	involves: 129S4/SvJaeSor * C57BL/6	MGI:5754732
cn24	Myf5^tm3(cre)Sor/Myf5⁺ Tg(ACTB-Edn1)1398Clou/0	involves: 129S4/SvJaeSor * C57BL/6	MGI:5754731
cn25	Zfp422^em1Mode/Zfp422^em1Mode Myf5^tm3(cre)Sor/Myf5⁺	involves: 129S4/SvJaeSor * C57BL/6J	MGI:6477291
cn26	Kmt2d^tm1.1Kaig/Kmt2d^tm1.1Kaig Myf5^tm3(cre)Sor/Myf5⁺	involves: 129S4/SvJaeSor * C57BL/6J	MGI:5585627
cn27	Atp11a^{tm1c(KOMP)Wtsi}/Atp11a^{tm1c(KOMP)Wtsi} Myf5^tm3(cre)Sor/Myf5⁺	involves: 129S4/SvJaeSor * C57BL/6JJcl * C57BL/6N	MGI:6188641
cn28	Lbx1^tm1.1Khan/Lbx1^tm1.1Khan Myf5^tm3(cre)Sor/Myf5⁺	involves: 129S4/SvJaeSor * C57BL/6JJcl * C57BL/6NCrlj * CBA/JNCrlj	MGI:5304420
cn29	Elmo2^{tm1c(EUCOMM)Hmgu}/Elmo2^{tm1c(EUCOMM)Hmgu} Myf5^tm3(cre)Sor/Myf5⁺	involves: 129S4/SvJaeSor * C57BL/6N	MGI:7545142
cn30	Myf5^tm3(cre)Sor/Myf5⁺ Spin1^tm1.1Rosc/Spin1^tm1.1Rosc	involves: 129S4/SvJaeSor * C57BL/6N * C57BL/6NTac	MGI:6511296
cn31	Fktn^tm1Kcam/Fktn^tm1Kcam Myf5^tm3(cre)Sor/Myf5⁺	involves: 129S/SvEv * 129S4/SvJaeSor	MGI:5435676
cx32	Myf5^tm3(cre)Sor/Myf5^tm3(cre)Sor Myod1^tm1Jae/Myod1^tm1Jae	involves: 129S4/SvJae * C57BL/6J	MGI:3713926

Allelic Composition	Myf5^tm3(cre)Sor/Myf5^tm3(cre)Sor
Genetic Background	involves: 129S4/SvJae * C57BL/6J

Find Mice

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

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

skeleton

abnormal rib development ( J:65301 )

• animals show more rib formation than Myf5^tm1Jae homozygotes, but ribs frequently do not extend to the vertebrae

thoracic vertebral fusion ( J:65301 )

• fusions are seen in most animals, but are less severe than in Myf5^tm1Jae homozygotes

cervical vertebral fusion ( J:65301 )

• fusions are seen in most animals, but are less severe than in Myf5^tm1Jae homozygotes

Allelic Composition	Crppa^em2Mbp/Crppa^em2Mbp Myf5^tm3(cre)Sor/Myf5⁺
Genetic Background	B6.Cg-Myf5^tm3(cre)Sor Crppa^em2Mbp

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crppa^em2Mbp mutation (1 available); any Crppa mutation (22 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:324289 )

• some mice die after 10 weeks of age and most die by 20 weeks of age

growth/size/body

decreased body weight ( J:324289 )

slow postnatal weight gain ( J:324289 )

• body weight increases slower at a young age and stops entirely at 10 weeks

muscle

abnormal skeletal muscle morphology ( J:324289 )

• skeletal muscle shows decreased CDP-ribitol levels

• while most mice show dystrophic muscle, a small number of mice show a milder muscle phenotype

skeletal muscle fiber necrosis ( J:324289 )

• necrotic and regenerating fibers in 12-week-old mice

increased variability of skeletal muscle fiber size ( J:324289 )

• 12-week-old mice exhibit fiber size variation

centrally nucleated skeletal muscle fibers ( J:324289 )

decreased skeletal muscle weight ( J:324289 )

• muscle weight (calf, quadriceps, and triceps) are lower at 12 weeks of age

skeletal muscle fibrosis ( J:324289 )

• 12-week-old mice exhibit muscle fibrosis

dystrophic muscle ( J:324289 )

• 12-week-old mice show signs of muscular dystrophy, such as necrotic and regenerating fibers, central nucleation, and fibrous connective tissue infiltration, which are also seen mildly in 4-week-old mice

• adeno-associated virus vector-mediated gene replacement with human CRPPA results in improvement in body weight, grip strength, serum creatine kinase levels, and amelioration of necrotic fibers, fiber size variation, and macrophage and connective tissue infiltration, indicating that the muscular dystrophy pathology is treatable even after onset

• a membrane-permeable CDP-ribitol derivative prodrug, CDP-Rbo(TetA), ameliorates muscular dystrophic changes

• ribitol supplementation has little effect on the dystrophic muscle phenotypes

behavior/neurological

decreased grip strength ( J:324289 )

• grip strength is weaker at 4, 8, and 12 weeks of age

cellular

skeletal muscle fiber necrosis ( J:324289 )

• necrotic and regenerating fibers in 12-week-old mice

homeostasis/metabolism

increased circulating creatine kinase level ( J:324289 )

• serum creatinine kinase is increased at all ages examined

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive limb-girdle muscular dystrophy type 2U		DOID:0110295	OMIM:616052	J:324289

Allelic Composition	Gt(ROSA)26Sor^tm1(DTA)Lky/Gt(ROSA)26Sor⁺ Myf5^tm3(cre)Sor/Myf5⁺
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJaeSor

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^tm1(DTA)Lky mutation (3 available); any Gt(ROSA)26Sor mutation (942 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

lethality throughout fetal growth and development, complete penetrance ( J:310908 )

• die around E15.5

craniofacial

decreased palatal shelf size ( J:310908 )

• palatal shelves are smaller

abnormal soft palate morphology ( J:310908 )

• at E15.5 almost all soft palates are fusing with the degenerating epithelial beam at the tensor veli palatini muscle level

abnormal soft palate muscle morphology ( J:310908 )

• absence of levator veli palatini, tensor veli palatini, and palatopharyngeus muscles

abnormal levator veli palatini muscle morphology ( J:310908 )

• absence of levator veli palatini muscle

abnormal palatopharyngeus muscle morphology ( J:310908 )

• absence of palatopharyngeus muscle

abnormal tensor veli palatini muscle morphology ( J:310908 )

• absence of tensor veli palatini muscle

muscle

abnormal soft palate muscle morphology ( J:310908 )

• absence of levator veli palatini, tensor veli palatini, and palatopharyngeus muscles

abnormal levator veli palatini muscle morphology ( J:310908 )

• absence of levator veli palatini muscle

abnormal palatopharyngeus muscle morphology ( J:310908 )

• absence of palatopharyngeus muscle

abnormal tensor veli palatini muscle morphology ( J:310908 )

• absence of tensor veli palatini muscle

abnormal superior pharyngeal constrictor muscle morphology ( J:310908 )

• absence of superior pharyngeal constrictor muscle

digestive/alimentary system

decreased palatal shelf size ( J:310908 )

• palatal shelves are smaller

abnormal soft palate morphology ( J:310908 )

• at E15.5 almost all soft palates are fusing with the degenerating epithelial beam at the tensor veli palatini muscle level

abnormal soft palate muscle morphology ( J:310908 )

• absence of levator veli palatini, tensor veli palatini, and palatopharyngeus muscles

abnormal levator veli palatini muscle morphology ( J:310908 )

• absence of levator veli palatini muscle

abnormal palatopharyngeus muscle morphology ( J:310908 )

• absence of palatopharyngeus muscle

abnormal tensor veli palatini muscle morphology ( J:310908 )

• absence of tensor veli palatini muscle

growth/size/body

decreased palatal shelf size ( J:310908 )

• palatal shelves are smaller

abnormal soft palate morphology ( J:310908 )

• at E15.5 almost all soft palates are fusing with the degenerating epithelial beam at the tensor veli palatini muscle level

abnormal soft palate muscle morphology ( J:310908 )

• absence of levator veli palatini, tensor veli palatini, and palatopharyngeus muscles

abnormal levator veli palatini muscle morphology ( J:310908 )

• absence of levator veli palatini muscle

abnormal palatopharyngeus muscle morphology ( J:310908 )

• absence of palatopharyngeus muscle

abnormal tensor veli palatini muscle morphology ( J:310908 )

• absence of tensor veli palatini muscle

respiratory system

abnormal superior pharyngeal constrictor muscle morphology ( J:310908 )

• absence of superior pharyngeal constrictor muscle

Allelic Composition	Ehmt1^tm1.1Tara/Ehmt1^tm1.1Tara Myf5^tm3(cre)Sor/Myf5⁺
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ehmt1^tm1.1Tara mutation (0 available); any Ehmt1 mutation (90 available)
Myf5^tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)

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

adipose tissue

decreased brown fat cell size ( J:207678 )

• at E18.5 and P1

decreased brown fat lipid droplet number ( J:207678 )

• at E18.5 and P1

decreased interscapular fat pad weight ( J:207678 )

• at E18.5 and P1

Allelic Composition	Elmo1^tm1.2Ravi/Elmo1^tm1.2Ravi Elmo2^{tm1c(EUCOMM)Hmgu}/Elmo2^{tm1c(EUCOMM)Hmgu} Myf5^tm3(cre)Sor/Myf5⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Elmo1^tm1.2Ravi mutation (0 available); any Elmo1 mutation (58 available)
Elmo2^{tm1c(EUCOMM)Hmgu} mutation (0 available); any Elmo2 mutation (37 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

lethality during fetal growth through weaning, complete penetrance ( J:331473 )

• no mice are present after weaning

• however, higher than Mendelian ratios at E14.5

muscle

abnormal muscle development ( J:331473 )

• only mononucleated muscle cells at E14.5

• reduced muscle content at E16.5

Allelic Composition	Dlk1^tm1.1Jvs/Dlk1⁺ Myf5^tm3(cre)Sor/Myf5⁺
Genetic Background	involves: 129P2/SvPas * 129S4/SvJaeSor * C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dlk1^tm1.1Jvs mutation (1 available); any Dlk1 mutation (34 available)
Myf5^tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)

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

muscle

increased skeletal muscle fiber size ( J:167124 )

• increased average size of the myotubes formed in satellite cell-derived primary myoblasts over-expressing Dlk1 when the allele is inherited paternally

increased skeletal muscle fiber diameter ( J:167124 )

• increased diameters of the resulting myotubes in the presence of Dlk1 coated substrate when the allele is inherited paternally

decreased skeletal muscle fiber number ( J:167124 )

• 25% reduction in total myofiber numbers in fast (EDL) and slow (soleus) muscles when the allele is inherited paternally

skeletal muscle fibrosis ( J:167124 )

• extensive fibrosis, scarification, and interstitial space occupied by massive cellular infiltration at 5-7 days after intramuscular injections of CTX to the tibialis anterior (TA) muscles when the allele is inherited paternally

impaired skeletal muscle regeneration ( J:167124 )

• impaired regeneration at 5-7 days after intramuscular injections of CTX to the tibialis anterior (TA) muscles when the allele is inherited paternally

• roughly 25% decrease in nascent de novo fiber formation five days after injury when the allele is inherited paternally

• extensive fibrosis, scarification, and interstitial space occupied by massive cellular infiltration when the allele is inherited paternally

cellular

abnormal cell differentiation ( J:167124 )

• increased proportion of self-renewing cells (Pax7+/MyoD-) in the cultured myoblasts on the mutant EDL fiber when the allele is inherited paternally

• accelerated differentiation kinetics in satellite cell-derived primary myoblasts over-expressing Dlk1 or in the presence of Dlk1 coated substrate when the allele is inherited paternally

decreased cell proliferation ( J:167124 )

• decreased proliferating cells (Pax7+/ MyoD+) in the cultured primary myoblasts on the mutant EDL fiber when the allele is inherited paternally

• reduced cell numbers at day 3 after transfection in satellite cell-derived primary myoblasts over-expressing Dlk1 when the allele is inherited paternally

• reduced numbers of proliferating cells (Ki67+) in satellite cell-derived primary myoblasts over-expressing Dlk1 or in the presence of Dlk1 coated substrate when the allele is inherited paternally

maternal imprinting ( J:167124 )

• Dlk1 is an imprinted gene expressed only from paternal allele

growth/size/body

decreased body weight ( J:167124 )

• reduced body weight when the allele is inherited paternally

adipose tissue

decreased brown adipose tissue mass ( J:167124 )

• decreased brown fat mass by 20% when the allele is inherited paternally

immune system

increased inflammatory response ( J:167124 )

• increased interstitial nuclei density- excessive infiltrated macrophages after injury when the allele is inherited paternally

Allelic Composition	Prox1^tm2Gco/Prox1^tm2Gco Myf5^tm3(cre)Sor/Myf5⁺
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5^tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Prox1^tm2Gco mutation (0 available); any Prox1 mutation (43 available)

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

muscle

abnormal skeletal muscle morphology ( J:212185 )

• mice exhibit a switch from a slow- to fast-twitch skeletal muscle phenotype, with an elevation of fast-twitch skeletal muscle gene expression in gastrocnemius and soleus muscles, a decrease in the type I fibers and increase in type IIa fibers in the soleus muscle, and an increase in maximal (tetanic) contractile strength and decrease in half relaxation time in the soleus

• however, no changes in the overall oxidative capacity of mutant soleus or EDL muscles and hearts do not exhibit myofibril disarray

Allelic Composition	Gdnf^tm1.1Neas/Gdnf^tm1.1Neas Myf5^tm3(cre)Sor/Myf5⁺
Genetic Background	involves: 129S1/Sv * 129S4/SvJaeSor * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdnf^tm1.1Neas mutation (1 available); any Gdnf mutation (18 available)
Myf5^tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)

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

nervous system

abnormal cholinergic neuron morphology ( J:160727 )

• at P20, mice exhibit a loss of small diameter cholinergic motor neurons compared with wild-type mice

decreased motor neuron number ( J:160727 )

• at P20, mice exhibit a loss of small diameter cholinergic motor neurons compared with wild-type mice

Allelic Composition	Myf5^tm3(cre)Sor/Myf5⁺ Ntf3^tm2Jae/Ntf3^tm2Jae
Genetic Background	involves: 129S1/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5^tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Ntf3^tm2Jae mutation (1 available); any Ntf3 mutation (24 available)

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

behavior/neurological

ataxia ( J:147957 )

abnormal posture ( J:147957 )

• mice show a flexed posture when inverted, similar to Erbb2 and Ntf3;Egr3 conditional mutants

abnormal gait ( J:147957 )

• mice exhibit a wide-based, ataxic gait, similar to Erbb2 conditional mutants; onset of abnormalities is delayed and is less pronounced, however, relative to Erbb2 conditional animals

nervous system

abnormal nervous system electrophysiology ( J:147957 )

• at P5, ventral root potentials are normal, but by P14, amplitudes of potentials are reduced by >75% compared to controls, similar to Ntf3;Egr3 conditional mutants

Allelic Composition	Erbb2^tm1Haus/Erbb2^tm1Klee Gfra1^tm3Jmi/Gfra1⁺ Myf5^tm3(cre)Sor/Myf5⁺
Genetic Background	involves: 129S4/SvJae * 129S4/SvJaeSor * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb2^tm1Haus mutation (0 available); any Erbb2 mutation (59 available)
Erbb2^tm1Klee mutation (0 available); any Erbb2 mutation (59 available)
Gfra1^tm3Jmi mutation (0 available); any Gfra1 mutation (31 available)
Myf5^tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)

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

nervous system

abnormal cholinergic neuron morphology ( J:160727 )

• the number of cholinergic motor neurons is decreased compared to in wild-type mice

decreased motor neuron number ( J:160727 )

• the number of cholinergic motor neurons is decreased compared to in wild-type mice

• mice exhibit a reduction in small Gfra1+ motor neurons compared with wild-type mice

• loss of gamma-motor neurons is intermediate to wild-type mice and Egr3^tm1Jmi homozygotes

• mice exhibit a decrease in large diameter motor neurons compared with wild-type mice

Allelic Composition	Erbb2^tm1Haus/Erbb2^tm1Klee Myf5^tm3(cre)Sor/Myf5⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb2^tm1Haus mutation (0 available); any Erbb2 mutation (59 available)
Erbb2^tm1Klee mutation (0 available); any Erbb2 mutation (59 available)
Myf5^tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)

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

behavior/neurological

ataxia ( J:147957 )

abnormal posture ( J:147957 )

• mice show a flexed posture when inverted

abnormal gait ( J:147957 )

• mice exhibit a wide-based, ataxic gait

nervous system

abnormal muscle spindle morphology ( J:147957 )

• only rudimentary muscle spindles with a single Egr3-positive myofiber are seen in tibialis anterior muscles at P3 in contrast to spindles in controls which have multiple Egr3+ intrafusal myofibers

• on P4 muscle spindles, few mutant spindles have the complex annulospiral afferent terminal seen around the equatorial region of intrafusal myofibers in control muscle; muscle spindle afferent terminal morphology is simple compared to controls

• spindle development fails to progress beyond E18 and mature spindles do not form

decreased muscle spindle number ( J:147957 )

• in tibialis anterior (TA) muscle, muscle spindle numbers are decreased 70% from those of controls

abnormal sensory neuron innervation pattern ( J:147957 )

• innervation of muscle spindles is simpler than observed in controls, but spindle afferent projection to the ventral spinal cord shows normal pattern

abnormal excitatory postsynaptic potential ( J:147957 )

• monosynaptic inputs from muscle spindle afferent to motor neurons are functional but reduced in amplitude; EPSPs evoked by dorsal root stimulation or evoked by muscle nerve stimulation are reduced from those of controls by similar amounts (to about 22-26% of wild-type amplitudes)

muscle

abnormal muscle spindle morphology ( J:147957 )

• spindle development fails to progress beyond E18 and mature spindles do not form

decreased muscle spindle number ( J:147957 )

• in tibialis anterior (TA) muscle, muscle spindle numbers are decreased 70% from those of controls

Allelic Composition	Lin28a^tm1Gqda/Lin28a^tm1Gqda Myf5^tm3(cre)Sor/Myf5⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6 * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lin28a^tm1Gqda mutation (0 available); any Lin28a mutation (76 available)
Myf5^tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)

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

homeostasis/metabolism

impaired glucose tolerance ( J:177113 )

insulin resistance ( J:177113 )

Allelic Composition	Myf5^tm3(cre)Sor/Myf5⁺ Tg(CAG-Nog)1Ych/0
Genetic Background	involves: 129S4/SvJaeSor

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5^tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Tg(CAG-Nog)1Ych mutation (0 available)

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

craniofacial

abnormal soft palate muscle morphology ( J:310908 )

abnormal levator veli palatini muscle morphology ( J:310908 )

• myofibers in the levator veli palatini are reduced and sparser compared to controls

abnormal palatopharyngeus muscle morphology ( J:310908 )

• myofibers in the palatopharyngeus are reduced and sparser compared to controls

abnormal tensor veli palatini muscle morphology ( J:310908 )

• myofibers in the tensor veli palatini are reduced and sparser compared to controls

cleft soft palate ( J:310908 )

• at E17.5 the soft palate is still separated at the palatopharyngeus level but fused at the level of the levator veli palatini and tensor veli palatini muscles

muscle

abnormal soft palate muscle morphology ( J:310908 )

abnormal levator veli palatini muscle morphology ( J:310908 )

• myofibers in the levator veli palatini are reduced and sparser compared to controls

abnormal palatopharyngeus muscle morphology ( J:310908 )

• myofibers in the palatopharyngeus are reduced and sparser compared to controls

abnormal tensor veli palatini muscle morphology ( J:310908 )

• myofibers in the tensor veli palatini are reduced and sparser compared to controls

abnormal superior pharyngeal constrictor muscle morphology ( J:310908 )

• myofibers in the superior pharyngeal constrictor are reduced and sparser compared to controls

digestive/alimentary system

abnormal soft palate muscle morphology ( J:310908 )

abnormal levator veli palatini muscle morphology ( J:310908 )

• myofibers in the levator veli palatini are reduced and sparser compared to controls

abnormal palatopharyngeus muscle morphology ( J:310908 )

• myofibers in the palatopharyngeus are reduced and sparser compared to controls

abnormal tensor veli palatini muscle morphology ( J:310908 )

• myofibers in the tensor veli palatini are reduced and sparser compared to controls

cleft soft palate ( J:310908 )

• at E17.5 the soft palate is still separated at the palatopharyngeus level but fused at the level of the levator veli palatini and tensor veli palatini muscles

growth/size/body

abnormal soft palate muscle morphology ( J:310908 )

abnormal levator veli palatini muscle morphology ( J:310908 )

• myofibers in the levator veli palatini are reduced and sparser compared to controls

abnormal palatopharyngeus muscle morphology ( J:310908 )

• myofibers in the palatopharyngeus are reduced and sparser compared to controls

abnormal tensor veli palatini muscle morphology ( J:310908 )

• myofibers in the tensor veli palatini are reduced and sparser compared to controls

cleft soft palate ( J:310908 )

• at E17.5 the soft palate is still separated at the palatopharyngeus level but fused at the level of the levator veli palatini and tensor veli palatini muscles

respiratory system

abnormal superior pharyngeal constrictor muscle morphology ( J:310908 )

• myofibers in the superior pharyngeal constrictor are reduced and sparser compared to controls

Allelic Composition	Pax7^tm1.1Thbr/Pax7^tm1.1Thbr Myf5^tm3(cre)Sor/Myf5⁺
Genetic Background	involves: 129S4/SvJaeSor

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5^tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Pax7^tm1.1Thbr mutation (0 available); any Pax7 mutation (39 available)

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

muscle

decreased skeletal muscle fiber diameter ( J:202693 )

• few thin myotubes following treatment with cardiotoxin

decreased skeletal muscle fiber number ( J:202693 )

• few thin myotubes following treatment with cardiotoxin

decreased satellite cell number ( J:202693 )

• in mice older than 56 days

• however, satellite cell numbers 10 weeks are normal

impaired skeletal muscle regeneration ( J:202693 )

• severe impairment following treatment with cardiotoxin at days 56, 90 and 315

growth/size/body

decreased body size ( J:202693 )

Allelic Composition	Stat5a^tm2Mam/Stat5a^tm2Mam Stat5b^tm1Mam/Stat5b^tm1Mam Myf5^tm3(cre)Sor/Myf5⁺
Genetic Background	involves: 129S4/SvJaeSor * 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5^tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Stat5a^tm2Mam mutation (1 available); any Stat5a mutation (48 available)
Stat5b^tm1Mam mutation (0 available); any Stat5b mutation (33 available)

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

growth/size/body

decreased lean body mass ( J:119237 )

• reduced lean mass at 8 weeks of age

• normal fraction of lean mass to total body weight

decreased body weight ( J:119237 )

• 12% and 20% smaller for female and male mice respectively, at 8 weeks of age

decreased body length ( J:119237 )

• reduced body length at 8 weeks of age

adipose tissue

increased total body fat amount ( J:119237 )

• a trend toward higher total fat mass at 8 weeks of age

homeostasis/metabolism

decreased circulating insulin-like growth factor I level ( J:119237 )

• 15% decrease in circulating IGF-I level at 8 weeks of age

increased circulating triglyceride level ( J:119237 )

• elevated serum triglycerides at 8 weeks of age

impaired glucose tolerance ( J:119237 )

• glucose intolerance in male mice at 30- and 60-min after glucose challenge

• a similar trend in female, but less severe

Allelic Composition	Myf5^tm3(cre)Sor/Myf5⁺ Stat5b^tm1Mam/Stat5b^tm1Mam
Genetic Background	involves: 129S4/SvJaeSor * 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5^tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Stat5b^tm1Mam mutation (0 available); any Stat5b mutation (33 available)

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

adipose tissue

increased total body fat amount ( J:119237 )

• a trend toward higher total fat mass at 8 weeks of age

growth/size/body

decreased lean body mass ( J:119237 )

• reduced lean mass at 8 weeks of age

• normal fraction of lean mass to total body weight

decreased body weight ( J:119237 )

• 12% and 20% smaller for female and male mice respectively, at 8 weeks of age

decreased body length ( J:119237 )

• reduced body length at 8 weeks of age

homeostasis/metabolism

decreased circulating insulin-like growth factor I level ( J:119237 )

• 15% decrease in circulating IGF-I level at 8 weeks of age

increased circulating triglyceride level ( J:119237 )

• elevated serum triglycerides at 8 weeks of age

impaired glucose tolerance ( J:119237 )

• glucose intolerance in male mice at 30- and 60-min after glucose challenge

• a similar trend in female, but less severe

Allelic Composition	Myf5^tm3(cre)Sor/Myf5⁺ Stat5b^tm1Mam/Stat5b^tm1Mam Tg(Alb1-cre)1Dlr/0
Genetic Background	involves: 129S4/SvJaeSor * 129S6/SvEvTac * FVB/N

Find Mice

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

adipose tissue

increased total body fat amount ( J:119237 )

• modest increase in body fat at 8 weeks of age

growth/size/body

decreased lean body mass ( J:119237 )

• reduced lean mass at 8 weeks of age

• reduction in fraction of lean mass at 8 weeks of age

decreased body weight ( J:119237 )

• 12% and 20% smaller for female and male mice respectively, at 8 wk of age

decreased body length ( J:119237 )

• reduced body length at 8 weeks of age

homeostasis/metabolism

decreased circulating insulin-like growth factor I level ( J:119237 )

• 60% decrease in circulating IGF-I level at 8 weeks of age

Allelic Composition	Myf5^tm3(cre)Sor/Myf5⁺ Stat5a^tm2Mam/Stat5a^tm2Mam Stat5b^tm1Mam/Stat5b^tm1Mam Tg(Alb1-cre)1Dlr/0
Genetic Background	involves: 129S4/SvJaeSor * 129S6/SvEvTac * FVB/N

Find Mice

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

growth/size/body

decreased lean body mass ( J:119237 )

• reduced lean mass at 8 weeks of age

• reduction in fraction of lean mass at 8 weeks of age

decreased body weight ( J:119237 )

• 12% and 20% smaller for female and male mice respectively, at 8 wk of age

decreased body length ( J:119237 )

• reduced body length at 8 weeks of age

adipose tissue

increased total body fat amount ( J:119237 )

• modest increase in body fat at 8 weeks of age

homeostasis/metabolism

decreased circulating insulin-like growth factor I level ( J:119237 )

• 60% decrease in circulating IGF-I level at 8 weeks of age

Allelic Composition	Myf5^tm3(cre)Sor/Myf5⁺ Sik1^tm1.1Berd/Sik1^tm1.1Berd
Genetic Background	involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6J * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5^tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Sik1^tm1.1Berd mutation (0 available); any Sik1 mutation (39 available)

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

homeostasis/metabolism

abnormal glucose homeostasis ( J:236223 )

• mice fed a high fat diet exhibit elevated glucose disposal and skeletal muscle 2-deoxyglucose uptake rates compared with control mice

decreased circulating insulin level ( J:236223 )

• mice fed a high fat diet exhibit a slightly weaker insulin response to glucose compared with control mice

abnormal gluconeogenesis ( J:236223 )

• slightly reduced basal glucose production during hyperinsulinemic euglycemic clamps requiring more exogenous glucose to achieve and maintain euglycemia in mice fed a high-fat diet

improved glucose tolerance ( J:236223 )

• mice fed a high-fat diet exhibit improved glucose tolerance at late time points compared with control mice

increased insulin sensitivity ( J:236223 )

• in mice fed a high-fat diet

muscle

muscle phenotype ( J:236223 )

N	• mice exhibit grossly normal muscle structure without evidence of degeneration

increased muscle cell glucose uptake ( J:236223 )

• mice fed a high fat diet exhibit elevated skeletal muscle 2-deoxyglucose uptake rates compared with control mice

cellular

increased muscle cell glucose uptake ( J:236223 )

• mice fed a high fat diet exhibit elevated skeletal muscle 2-deoxyglucose uptake rates compared with control mice

Allelic Composition	Myf5^tm3(cre)Sor/Myf5⁺ Tg(ACTB-Edn1)721Clou/0
Genetic Background	involves: 129S4/SvJaeSor * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5^tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Tg(ACTB-Edn1)721Clou mutation (0 available)

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

skeleton

abnormal costal cartilage morphology ( J:221133 )

• fusions between the first and second costal cartilages

Allelic Composition	Fktn^tm3.1Ttd/Fktn^tm3.1Ttd Myf5^tm3(cre)Sor/Myf5⁺
Genetic Background	involves: 129S4/SvJaeSor * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fktn^tm3.1Ttd mutation (0 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

cellular

skeletal muscle necrosis ( J:198535 )

• at 4, 8 and 16 weeks

mortality/aging

premature death ( J:198535 )

• most mice die by 6 months

muscle

skeletal muscle necrosis ( J:198535 )

• at 4, 8 and 16 weeks

abnormal muscle precursor cell morphology ( J:198535 )

• adult mice exhibit fewer muscle progenitor cells compared with control mice

increased collagen deposition in the muscles ( J:198535 )

• however, infection with an Fktn-expressing adenovirus rescues collagen accumulation

increased variability of skeletal muscle fiber size ( J:198535 )

• at 16 weeks

centrally nucleated skeletal muscle fibers ( J:198535 )

• at 4, 8 and 16 weeks

• however, infection with an Fktn-expressing adenovirus rescues nucleus localization

decreased skeletal muscle weight ( J:198535 )

• however, infection with an Fktn-expressing adenovirus rescues muscle weight

skeletal muscle atrophy ( J:198535 )

• severe in some mice treated with cardiotoxin

decreased satellite cell number ( J:198535 )

• at 16 weeks, but not in young mice

skeletal muscle fibrosis ( J:198535 )

• at 16 weeks

abnormal muscle precursor cell physiology ( J:198535 )

• adult mice exhibit impaired muscle progenitor cell viability compared with control mice

impaired skeletal muscle regeneration ( J:198535 )

• after cardiotoxin treatment, mice exhibit reduced regenerative capacity in TA muscles with increased smaller regenerating fibers compared with control mice

• however, infection with an Fktn-expressing adenovirus rescues regeneration

growth/size/body

decreased body weight ( J:198535 )

• however, infection with an Fktn-expressing adenovirus rescues body weight

postnatal growth retardation ( J:198535 )

• after 2 weeks of age

homeostasis/metabolism

increased circulating creatine kinase level ( J:198535 )

• at 4, 8 and 16 weeks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
muscular dystrophy-dystroglycanopathy type B1		DOID:0050588	OMIM:613155	J:198535

Allelic Composition	Myf5^tm3(cre)Sor/Myf5⁺ Tg(ACTB-Edn1)1416Clou/0
Genetic Background	involves: 129S4/SvJaeSor * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5^tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Tg(ACTB-Edn1)1416Clou mutation (0 available)

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

craniofacial

upper jaw to lower jaw transformation ( J:221133 )

• one mutant exhibits partial homeotic transformation of the maxilla into a mandible

skeleton

upper jaw to lower jaw transformation ( J:221133 )

• one mutant exhibits partial homeotic transformation of the maxilla into a mandible

abnormal costal cartilage morphology ( J:221133 )

• fusions between the first and second costal cartilages, with varying other costal cartilage fusions at E18.5

rib fusion ( J:221133 )

• fusions between adjoining ribs

Allelic Composition	Myf5^tm3(cre)Sor/Myf5⁺ Tg(ACTB-Edn1)1408Clou/0
Genetic Background	involves: 129S4/SvJaeSor * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5^tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Tg(ACTB-Edn1)1408Clou mutation (0 available)

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

skeleton

abnormal costal cartilage morphology ( J:221133 )

• fusions between the first and second costal cartilages, with varying other costal cartilage fusions at E18.5

rib fusion ( J:221133 )

• fusions between adjoining ribs

Allelic Composition	Myf5^tm3(cre)Sor/Myf5⁺ Tg(ACTB-Edn1)1398Clou/0
Genetic Background	involves: 129S4/SvJaeSor * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5^tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Tg(ACTB-Edn1)1398Clou mutation (0 available)

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

skeleton

abnormal costal cartilage morphology ( J:221133 )

• fusions between the first and second costal cartilages, with varying other costal cartilage fusions at E18.5

rib fusion ( J:221133 )

• fusions between adjoining ribs

Allelic Composition	Zfp422^em1Mode/Zfp422^em1Mode Myf5^tm3(cre)Sor/Myf5⁺
Genetic Background	involves: 129S4/SvJaeSor * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5^tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Zfp422^em1Mode mutation (0 available); any Zfp422 mutation (16 available)

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

growth/size/body

decreased fetal weight ( J:297035 )

• decreased weight at E17

muscle

abnormal myoblast differentiation ( J:297035 )

• differentiation of isolated myoblasts is impaired with both the differentiation and fusion indices decreased compared to controls

abnormal skeletal muscle fiber morphology ( J:297035 )

• the shape of the dorsal muscles is not well organized compared to controls at E17

decreased skeletal muscle fiber size ( J:297035 )

• smaller dorsal muscle myofibers at E17

cellular

abnormal myoblast differentiation ( J:297035 )

• differentiation of isolated myoblasts is impaired with both the differentiation and fusion indices decreased compared to controls

Allelic Composition	Kmt2d^tm1.1Kaig/Kmt2d^tm1.1Kaig Myf5^tm3(cre)Sor/Myf5⁺
Genetic Background	involves: 129S4/SvJaeSor * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kmt2d^tm1.1Kaig mutation (1 available); any Kmt2d mutation (167 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

neonatal lethality, complete penetrance ( J:207891 )

• mice die immediately after birth due to breathing malfunction

adipose tissue

decreased brown adipose tissue amount ( J:207891 )

abnormal brown fat cell differentiation ( J:207891 )

• moderate defects in brown adipose tissue differentiation in vitro

muscle

abnormal muscle morphology ( J:207891 )

decreased muscle weight ( J:207891 )

respiratory system

respiratory failure ( J:207891 )

• at birth

cellular

abnormal brown fat cell differentiation ( J:207891 )

• moderate defects in brown adipose tissue differentiation in vitro

Allelic Composition	Atp11a^{tm1c(KOMP)Wtsi}/Atp11a^{tm1c(KOMP)Wtsi} Myf5^tm3(cre)Sor/Myf5⁺
Genetic Background	involves: 129S4/SvJaeSor * C57BL/6JJcl * C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp11a^{tm1c(KOMP)Wtsi} mutation (0 available); any Atp11a mutation (53 available)
Myf5^tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)

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

muscle

muscle phenotype ( J:262981 )

N	• mice exhibit normal gross muscle morphology and function (grip strength and treadmill running tests)

abnormal myoblast differentiation ( J:262981 )

• isolated primary myoblasts form aberrantly enlarged syncytia upon differentiation

abnormal skeletal muscle regeneration ( J:262981 )

• abnormally fused myofibers following cardiotoxin-induced regeneration of the tibialis anterior muscle

cellular

abnormal myoblast differentiation ( J:262981 )

• isolated primary myoblasts form aberrantly enlarged syncytia upon differentiation

Allelic Composition	Lbx1^tm1.1Khan/Lbx1^tm1.1Khan Myf5^tm3(cre)Sor/Myf5⁺
Genetic Background	involves: 129S4/SvJaeSor * C57BL/6JJcl * C57BL/6NCrlj * CBA/JNCrlj

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lbx1^tm1.1Khan mutation (0 available); any Lbx1 mutation (13 available)
Myf5^tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)

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

muscle

abnormal muscle precursor cell migration ( J:178868 )

• impaired

abnormal skeletal muscle morphology ( J:178868 )

• mice exhibit a reduction in limb extensor muscle mass

growth/size/body

decreased body size ( J:178868 )

• somewhat compared with Lbx1^tm1.1Khan homozygotes

cellular

abnormal muscle precursor cell migration ( J:178868 )

• impaired

Allelic Composition	Elmo2^{tm1c(EUCOMM)Hmgu}/Elmo2^{tm1c(EUCOMM)Hmgu} Myf5^tm3(cre)Sor/Myf5⁺
Genetic Background	involves: 129S4/SvJaeSor * C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Elmo2^{tm1c(EUCOMM)Hmgu} mutation (0 available); any Elmo2 mutation (37 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

preweaning lethality, incomplete penetrance ( J:331473 )

• fewer than expected mice are present at weaning

Allelic Composition	Myf5^tm3(cre)Sor/Myf5⁺ Spin1^tm1.1Rosc/Spin1^tm1.1Rosc
Genetic Background	involves: 129S4/SvJaeSor * C57BL/6N * C57BL/6NTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5^tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Spin1^tm1.1Rosc mutation (0 available); any Spin1 mutation (99 available)

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:302851 )

• about 80% of mice die within 1 day after birth

growth/size/body

decreased body weight ( J:302851 )

• adult mice weigh only around 60% of controls

cachexia ( J:302851 )

• adult mice exhibit cachexia

behavior/neurological

absent gastric milk in neonates ( J:302851 )

• newborns show an absence of milk in the stomach

abnormal posture ( J:302851 )

• newborns exhibit an abnormal posture

limbs/digits/tail

abnormal forelimb morphology ( J:302851 )

• dropping forelimbs are seen at E16.5

abnormal soleus morphology ( J:302851 )

• adult mice exhibit abnormally thin and pale soleus muscle

• adults show degeneration of the soleus muscle, showing rounded fibers, differences in fiber diameters, and presence of inflammatory cells

abnormal tibialis anterior morphology ( J:302851 )

• tibialis anterior muscle shows loss of fibers and numerous immature or degenerating fibers lacking contractile material in newborns

• adult mice show tibialis anterior muscle degeneration

• in adult tibialis anterior muscle, fiber types are not clearly distinguishable and type II a fibers are rarely observed

muscle

abnormal myogenesis ( J:302851 )

• transcriptome analysis indicates aberrant fetal myogenesis

abnormal M line morphology ( J:302851 )

• non-necrotic muscle fibers lack a clear M-line

abnormal skeletal muscle morphology ( J:302851 )

• transcriptome analysis indicates that the approximate onset of skeletal muscle defects is E15.5

abnormal soleus morphology ( J:302851 )

• adult mice exhibit abnormally thin and pale soleus muscle

• adults show degeneration of the soleus muscle, showing rounded fibers, differences in fiber diameters, and presence of inflammatory cells

abnormal tibialis anterior morphology ( J:302851 )

• tibialis anterior muscle shows loss of fibers and numerous immature or degenerating fibers lacking contractile material in newborns

• adult mice show tibialis anterior muscle degeneration

• in adult tibialis anterior muscle, fiber types are not clearly distinguishable and type II a fibers are rarely observed

abnormal skeletal muscle fiber morphology ( J:302851 )

• non-necrotic fibers exhibit defects including a low density of contractile material and the lack of a clear M-line

skeletal muscle fiber necrosis ( J:302851 )

• hindlimb muscles show degenerating, necrotic fibers at E16.5 and in neonates

increased skeletal muscle fiber size ( J:302851 )

• unusually large muscle fibers are more frequently observed at E15

decreased skeletal muscle fiber number ( J:302851 )

• number of tibialis anterior fibers is reduced by about 50% in adults

abnormal diaphragm morphology ( J:302851 )

• adult mice show diaphragm muscle degeneration, with severe muscle fiber degeneration

abnormal skeletal muscle fiber type ratio ( J:302851 )

• in adult tibialis anterior muscle, fiber types are not clearly distinguishable and type II a fibers are rarely observed

• however, all expected fiber types are seen in the degenerating soleus and neighboring plantaris muscles, although irregular fiber size is seen

decreased skeletal muscle mass ( J:302851 )

• hind limb muscles (gastrocnemius, plantaris, tibialis anterior, extensor digitorum longus, and quadriceps) show a reduced mass in adults

• muscle mass reduction is about 60% for tibialis anterior and about 30% for the other muscles

skeletal muscle degeneration ( J:302851 )

• mice show soleus, tibialis anterior, and diaphragm muscle degeneration in adults

skeletal muscle fiber degeneration ( J:302851 )

• hindlimb muscles show degenerating, necrotic fibers, defective mitochondria, and abnormal glycogen accumulation in newborns and at E16.5

• soleus and diaphragms show muscle fiber degeneration

• however, gastrocnemius and extensor digitorum longus appear largely normal

skeletal muscle fibrosis ( J:302851 )

• adult soleus and tibialis anterior muscles show abnormal collagen deposition indicating fibrosis in adults

nervous system

abnormal neuromuscular synapse morphology ( J:302851 )

• neuromuscular junctions in the diaphragm of newborns and adults show defects of the synaptic membrane and an abnormal appearance, and reduced number of synaptic vesicles

• adult mice exhibit the presence of vacuoles at nerve terminals

skeleton

scoliosis ( J:302851 )

• adult surviving mice exhibit severe scoliosis

cellular

skeletal muscle fiber necrosis ( J:302851 )

• hindlimb muscles show degenerating, necrotic fibers at E16.5 and in neonates

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	Myf5^tm3(cre)Sor/Myf5^tm3(cre)Sor Myod1^tm1Jae/Myod1^tm1Jae
Genetic Background	involves: 129S4/SvJae * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5^tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Myod1^tm1Jae mutation (2 available); any Myod1 mutation (23 available)

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

muscle

abnormal myogenesis ( J:65301 )

abnormal myotube morphology ( J:65301 )

• mutant embryos do not form skeletal myotubes

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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