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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Myf5tm3(cre)Sor
targeted mutation 3, Philippe Soriano
MGI:2135565
Summary 32 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Myf5tm3(cre)Sor/Myf5tm3(cre)Sor involves: 129S4/SvJae * C57BL/6J MGI:3713924
cn2
Crppaem2Mbp/Crppaem2Mbp
Myf5tm3(cre)Sor/Myf5+
B6.Cg-Myf5tm3(cre)Sor Crppaem2Mbp MGI:7279103
cn3
Gt(ROSA)26Sortm1(DTA)Lky/Gt(ROSA)26Sor+
Myf5tm3(cre)Sor/Myf5+
involves: 129P2/OlaHsd * 129S4/SvJaeSor MGI:7345612
cn4
Ehmt1tm1.1Tara/Ehmt1tm1.1Tara
Myf5tm3(cre)Sor/Myf5+
involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6 MGI:6105943
cn5
Elmo1tm1.2Ravi/Elmo1tm1.2Ravi
Elmo2tm1c(EUCOMM)Hmgu/Elmo2tm1c(EUCOMM)Hmgu
Myf5tm3(cre)Sor/Myf5+
involves: 129P2/OlaHsd * C57BL/6N MGI:7545138
cn6
Dlk1tm1.1Jvs/Dlk1+
Myf5tm3(cre)Sor/Myf5+
involves: 129P2/SvPas * 129S4/SvJaeSor * C57BL/6 * FVB/N MGI:4879116
cn7
Prox1tm2Gco/Prox1tm2Gco
Myf5tm3(cre)Sor/Myf5+
involves: 129S1/Sv * 129S4/SvJae * C57BL/6J MGI:5907124
cn8
Gdnftm1.1Neas/Gdnftm1.1Neas
Myf5tm3(cre)Sor/Myf5+
involves: 129S1/Sv * 129S4/SvJaeSor * C57BL/6 * SJL MGI:4456171
cn9
Myf5tm3(cre)Sor/Myf5+
Ntf3tm2Jae/Ntf3tm2Jae
involves: 129S1/Sv * C57BL/6 MGI:3843812
cn10
Erbb2tm1Haus/Erbb2tm1Klee
Gfra1tm3Jmi/Gfra1+
Myf5tm3(cre)Sor/Myf5+
involves: 129S4/SvJae * 129S4/SvJaeSor * 129X1/SvJ MGI:4456175
cn11
Erbb2tm1Haus/Erbb2tm1Klee
Myf5tm3(cre)Sor/Myf5+
involves: 129S4/SvJae * C57BL/6 MGI:3843807
cn12
Lin28atm1Gqda/Lin28atm1Gqda
Myf5tm3(cre)Sor/Myf5+
involves: 129S4/SvJae * C57BL/6 * CD-1 MGI:5294786
cn13
Myf5tm3(cre)Sor/Myf5+
Tg(CAG-Nog)1Ych/0
involves: 129S4/SvJaeSor MGI:7345607
cn14
Pax7tm1.1Thbr/Pax7tm1.1Thbr
Myf5tm3(cre)Sor/Myf5+
involves: 129S4/SvJaeSor MGI:5548075
cn15
Stat5atm2Mam/Stat5atm2Mam
Stat5btm1Mam/Stat5btm1Mam
Myf5tm3(cre)Sor/Myf5+
involves: 129S4/SvJaeSor * 129S6/SvEvTac MGI:4840214
cn16
Myf5tm3(cre)Sor/Myf5+
Stat5btm1Mam/Stat5btm1Mam
involves: 129S4/SvJaeSor * 129S6/SvEvTac MGI:4840215
cn17
Myf5tm3(cre)Sor/Myf5+
Stat5btm1Mam/Stat5btm1Mam
Tg(Alb1-cre)1Dlr/0
involves: 129S4/SvJaeSor * 129S6/SvEvTac * FVB/N MGI:4840224
cn18
Myf5tm3(cre)Sor/Myf5+
Stat5atm2Mam/Stat5atm2Mam
Stat5btm1Mam/Stat5btm1Mam
Tg(Alb1-cre)1Dlr/0
involves: 129S4/SvJaeSor * 129S6/SvEvTac * FVB/N MGI:4840222
cn19
Myf5tm3(cre)Sor/Myf5+
Sik1tm1.1Berd/Sik1tm1.1Berd
involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6J * SJL MGI:5805512
cn20
Myf5tm3(cre)Sor/Myf5+
Tg(ACTB-Edn1)721Clou/0
involves: 129S4/SvJaeSor * C57BL/6 MGI:5754730
cn21
Myf5tm3(cre)Sor/Myf5+
Tg(ACTB-Edn1)1398Clou/0
involves: 129S4/SvJaeSor * C57BL/6 MGI:5754731
cn22
Fktntm3.1Ttd/Fktntm3.1Ttd
Myf5tm3(cre)Sor/Myf5+
involves: 129S4/SvJaeSor * C57BL/6 MGI:5514353
cn23
Myf5tm3(cre)Sor/Myf5+
Tg(ACTB-Edn1)1408Clou/0
involves: 129S4/SvJaeSor * C57BL/6 MGI:5754732
cn24
Myf5tm3(cre)Sor/Myf5+
Tg(ACTB-Edn1)1416Clou/0
involves: 129S4/SvJaeSor * C57BL/6 MGI:5754733
cn25
Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig
Myf5tm3(cre)Sor/Myf5+
involves: 129S4/SvJaeSor * C57BL/6J MGI:5585627
cn26
Zfp422em1Mode/Zfp422em1Mode
Myf5tm3(cre)Sor/Myf5+
involves: 129S4/SvJaeSor * C57BL/6J MGI:6477291
cn27
Atp11atm1c(KOMP)Wtsi/Atp11atm1c(KOMP)Wtsi
Myf5tm3(cre)Sor/Myf5+
involves: 129S4/SvJaeSor * C57BL/6JJcl * C57BL/6N MGI:6188641
cn28
Lbx1tm1.1Khan/Lbx1tm1.1Khan
Myf5tm3(cre)Sor/Myf5+
involves: 129S4/SvJaeSor * C57BL/6JJcl * C57BL/6NCrlj * CBA/JNCrlj MGI:5304420
cn29
Elmo2tm1c(EUCOMM)Hmgu/Elmo2tm1c(EUCOMM)Hmgu
Myf5tm3(cre)Sor/Myf5+
involves: 129S4/SvJaeSor * C57BL/6N MGI:7545142
cn30
Myf5tm3(cre)Sor/Myf5+
Spin1tm1.1Rosc/Spin1tm1.1Rosc
involves: 129S4/SvJaeSor * C57BL/6N * C57BL/6NTac MGI:6511296
cn31
Fktntm1Kcam/Fktntm1Kcam
Myf5tm3(cre)Sor/Myf5+
involves: 129S/SvEv * 129S4/SvJaeSor MGI:5435676
cx32
Myf5tm3(cre)Sor/Myf5tm3(cre)Sor
Myod1tm1Jae/Myod1tm1Jae
involves: 129S4/SvJae * C57BL/6J MGI:3713926


Genotype
MGI:3713924
hm1
Allelic
Composition
Myf5tm3(cre)Sor/Myf5tm3(cre)Sor
Genetic
Background
involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• animals show more rib formation than Myf5tm1Jae homozygotes, but ribs frequently do not extend to the vertebrae
• fusions are seen in most animals, but are less severe than in Myf5tm1Jae homozygotes
• fusions are seen in most animals, but are less severe than in Myf5tm1Jae homozygotes




Genotype
MGI:7279103
cn2
Allelic
Composition
Crppaem2Mbp/Crppaem2Mbp
Myf5tm3(cre)Sor/Myf5+
Genetic
Background
B6.Cg-Myf5tm3(cre)Sor Crppaem2Mbp
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crppaem2Mbp mutation (1 available); any Crppa mutation (22 available)
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some mice die after 10 weeks of age and most die by 20 weeks of age

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

muscle
• skeletal muscle shows decreased CDP-ribitol levels
• while most mice show dystrophic muscle, a small number of mice show a milder muscle phenotype
• 12-week-old mice exhibit fiber size variation
• necrotic and regenerating fibers in 12-week-old mice
• muscle weight (calf, quadriceps, and triceps) are lower at 12 weeks of age
• 12-week-old mice exhibit muscle fibrosis
• 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
• grip strength is weaker at 4, 8, and 12 weeks of age

homeostasis/metabolism
• serum creatinine kinase is increased at all ages examined




Genotype
MGI:7345612
cn3
Allelic
Composition
Gt(ROSA)26Sortm1(DTA)Lky/Gt(ROSA)26Sor+
Myf5tm3(cre)Sor/Myf5+
Genetic
Background
involves: 129P2/OlaHsd * 129S4/SvJaeSor
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1(DTA)Lky mutation (3 available); any Gt(ROSA)26Sor mutation (993 available)
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

craniofacial
• palatal shelves are smaller
• at E15.5 almost all soft palates are fusing with the degenerating epithelial beam at the tensor veli palatini muscle level
• absence of levator veli palatini, tensor veli palatini, and palatopharyngeus muscles
• absence of levator veli palatini muscle
• absence of palatopharyngeus muscle
• absence of tensor veli palatini muscle

muscle
• absence of levator veli palatini, tensor veli palatini, and palatopharyngeus muscles
• absence of levator veli palatini muscle
• absence of palatopharyngeus muscle
• absence of tensor veli palatini muscle
• absence of superior pharyngeal constrictor muscle

digestive/alimentary system
• palatal shelves are smaller
• at E15.5 almost all soft palates are fusing with the degenerating epithelial beam at the tensor veli palatini muscle level
• absence of levator veli palatini, tensor veli palatini, and palatopharyngeus muscles
• absence of levator veli palatini muscle
• absence of palatopharyngeus muscle
• absence of tensor veli palatini muscle

growth/size/body
• palatal shelves are smaller
• at E15.5 almost all soft palates are fusing with the degenerating epithelial beam at the tensor veli palatini muscle level
• absence of levator veli palatini, tensor veli palatini, and palatopharyngeus muscles
• absence of levator veli palatini muscle
• absence of palatopharyngeus muscle
• absence of tensor veli palatini muscle

respiratory system
• absence of superior pharyngeal constrictor muscle




Genotype
MGI:6105943
cn4
Allelic
Composition
Ehmt1tm1.1Tara/Ehmt1tm1.1Tara
Myf5tm3(cre)Sor/Myf5+
Genetic
Background
involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ehmt1tm1.1Tara mutation (0 available); any Ehmt1 mutation (91 available)
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
adipose tissue
• at E18.5 and P1




Genotype
MGI:7545138
cn5
Allelic
Composition
Elmo1tm1.2Ravi/Elmo1tm1.2Ravi
Elmo2tm1c(EUCOMM)Hmgu/Elmo2tm1c(EUCOMM)Hmgu
Myf5tm3(cre)Sor/Myf5+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Elmo1tm1.2Ravi mutation (0 available); any Elmo1 mutation (59 available)
Elmo2tm1c(EUCOMM)Hmgu mutation (0 available); any Elmo2 mutation (37 available)
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no mice are present after weaning
• however, higher than Mendelian ratios at E14.5

muscle
• only mononucleated muscle cells at E14.5
• reduced muscle content at E16.5




Genotype
MGI:4879116
cn6
Allelic
Composition
Dlk1tm1.1Jvs/Dlk1+
Myf5tm3(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:
Dlk1tm1.1Jvs mutation (1 available); any Dlk1 mutation (34 available)
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• increased average size of the myotubes formed in satellite cell-derived primary myoblasts over-expressing Dlk1 when the allele is inherited paternally
• increased diameters of the resulting myotubes in the presence of Dlk1 coated substrate when the allele is inherited paternally
• 25% reduction in total myofiber numbers in fast (EDL) and slow (soleus) muscles when the allele is inherited paternally
• 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 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
• 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 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
• Dlk1 is an imprinted gene expressed only from paternal allele

growth/size/body
• reduced body weight when the allele is inherited paternally

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

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




Genotype
MGI:5907124
cn7
Allelic
Composition
Prox1tm2Gco/Prox1tm2Gco
Myf5tm3(cre)Sor/Myf5+
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Prox1tm2Gco mutation (0 available); any Prox1 mutation (43 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• 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




Genotype
MGI:4456171
cn8
Allelic
Composition
Gdnftm1.1Neas/Gdnftm1.1Neas
Myf5tm3(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:
Gdnftm1.1Neas mutation (1 available); any Gdnf mutation (19 available)
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• at P20, mice exhibit a loss of small diameter cholinergic motor neurons compared with wild-type mice
• at P20, mice exhibit a loss of small diameter cholinergic motor neurons compared with wild-type mice




Genotype
MGI:3843812
cn9
Allelic
Composition
Myf5tm3(cre)Sor/Myf5+
Ntf3tm2Jae/Ntf3tm2Jae
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Ntf3tm2Jae mutation (1 available); any Ntf3 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice show a flexed posture when inverted, similar to Erbb2 and Ntf3;Egr3 conditional mutants
• 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
• 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




Genotype
MGI:4456175
cn10
Allelic
Composition
Erbb2tm1Haus/Erbb2tm1Klee
Gfra1tm3Jmi/Gfra1+
Myf5tm3(cre)Sor/Myf5+
Genetic
Background
involves: 129S4/SvJae * 129S4/SvJaeSor * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb2tm1Haus mutation (0 available); any Erbb2 mutation (61 available)
Erbb2tm1Klee mutation (0 available); any Erbb2 mutation (61 available)
Gfra1tm3Jmi mutation (0 available); any Gfra1 mutation (33 available)
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• the number of cholinergic motor neurons is decreased compared to in wild-type mice
• 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 Egr3tm1Jmi homozygotes
• mice exhibit a decrease in large diameter motor neurons compared with wild-type mice




Genotype
MGI:3843807
cn11
Allelic
Composition
Erbb2tm1Haus/Erbb2tm1Klee
Myf5tm3(cre)Sor/Myf5+
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb2tm1Haus mutation (0 available); any Erbb2 mutation (61 available)
Erbb2tm1Klee mutation (0 available); any Erbb2 mutation (61 available)
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice show a flexed posture when inverted
• mice exhibit a wide-based, ataxic gait

nervous system
• 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
• in tibialis anterior (TA) muscle, muscle spindle numbers are decreased 70% from those of controls
• innervation of muscle spindles is simpler than observed in controls, but spindle afferent projection to the ventral spinal cord shows normal pattern
• 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
• 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
• in tibialis anterior (TA) muscle, muscle spindle numbers are decreased 70% from those of controls




Genotype
MGI:5294786
cn12
Allelic
Composition
Lin28atm1Gqda/Lin28atm1Gqda
Myf5tm3(cre)Sor/Myf5+
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lin28atm1Gqda mutation (0 available); any Lin28a mutation (76 available)
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism




Genotype
MGI:7345607
cn13
Allelic
Composition
Myf5tm3(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:
Myf5tm3(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
• myofibers in the levator veli palatini are reduced and sparser compared to controls
• myofibers in the palatopharyngeus are reduced and sparser compared to controls
• myofibers in the tensor veli palatini are reduced and sparser compared to controls
• 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
• myofibers in the levator veli palatini are reduced and sparser compared to controls
• myofibers in the palatopharyngeus are reduced and sparser compared to controls
• myofibers in the tensor veli palatini are reduced and sparser compared to controls
• myofibers in the superior pharyngeal constrictor are reduced and sparser compared to controls

digestive/alimentary system
• myofibers in the levator veli palatini are reduced and sparser compared to controls
• myofibers in the palatopharyngeus are reduced and sparser compared to controls
• myofibers in the tensor veli palatini are reduced and sparser compared to controls
• 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
• myofibers in the levator veli palatini are reduced and sparser compared to controls
• myofibers in the palatopharyngeus are reduced and sparser compared to controls
• myofibers in the tensor veli palatini are reduced and sparser compared to controls
• 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
• myofibers in the superior pharyngeal constrictor are reduced and sparser compared to controls




Genotype
MGI:5548075
cn14
Allelic
Composition
Pax7tm1.1Thbr/Pax7tm1.1Thbr
Myf5tm3(cre)Sor/Myf5+
Genetic
Background
involves: 129S4/SvJaeSor
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Pax7tm1.1Thbr mutation (0 available); any Pax7 mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• few thin myotubes following treatment with cardiotoxin
• few thin myotubes following treatment with cardiotoxin
• in mice older than 56 days
• however, satellite cell numbers 10 weeks are normal
• severe impairment following treatment with cardiotoxin at days 56, 90 and 315

growth/size/body




Genotype
MGI:4840214
cn15
Allelic
Composition
Stat5atm2Mam/Stat5atm2Mam
Stat5btm1Mam/Stat5btm1Mam
Myf5tm3(cre)Sor/Myf5+
Genetic
Background
involves: 129S4/SvJaeSor * 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Stat5atm2Mam mutation (1 available); any Stat5a mutation (48 available)
Stat5btm1Mam mutation (0 available); any Stat5b mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• reduced lean mass at 8 weeks of age
• normal fraction of lean mass to total body weight
• 12% and 20% smaller for female and male mice respectively, at 8 weeks of age
• reduced body length at 8 weeks of age

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

homeostasis/metabolism
• 15% decrease in circulating IGF-I level at 8 weeks of age
• elevated serum triglycerides at 8 weeks of age
• glucose intolerance in male mice at 30- and 60-min after glucose challenge
• a similar trend in female, but less severe




Genotype
MGI:4840215
cn16
Allelic
Composition
Myf5tm3(cre)Sor/Myf5+
Stat5btm1Mam/Stat5btm1Mam
Genetic
Background
involves: 129S4/SvJaeSor * 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Stat5btm1Mam mutation (0 available); any Stat5b mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
adipose tissue
• a trend toward higher total fat mass at 8 weeks of age

growth/size/body
• reduced lean mass at 8 weeks of age
• normal fraction of lean mass to total body weight
• 12% and 20% smaller for female and male mice respectively, at 8 weeks of age
• reduced body length at 8 weeks of age

homeostasis/metabolism
• 15% decrease in circulating IGF-I level at 8 weeks of age
• elevated serum triglycerides at 8 weeks of age
• glucose intolerance in male mice at 30- and 60-min after glucose challenge
• a similar trend in female, but less severe




Genotype
MGI:4840224
cn17
Allelic
Composition
Myf5tm3(cre)Sor/Myf5+
Stat5btm1Mam/Stat5btm1Mam
Tg(Alb1-cre)1Dlr/0
Genetic
Background
involves: 129S4/SvJaeSor * 129S6/SvEvTac * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Stat5btm1Mam mutation (0 available); any Stat5b mutation (33 available)
Tg(Alb1-cre)1Dlr mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
adipose tissue
• modest increase in body fat at 8 weeks of age

growth/size/body
• reduced lean mass at 8 weeks of age
• reduction in fraction of lean mass at 8 weeks of age
• 12% and 20% smaller for female and male mice respectively, at 8 wk of age
• reduced body length at 8 weeks of age

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




Genotype
MGI:4840222
cn18
Allelic
Composition
Myf5tm3(cre)Sor/Myf5+
Stat5atm2Mam/Stat5atm2Mam
Stat5btm1Mam/Stat5btm1Mam
Tg(Alb1-cre)1Dlr/0
Genetic
Background
involves: 129S4/SvJaeSor * 129S6/SvEvTac * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Stat5atm2Mam mutation (1 available); any Stat5a mutation (48 available)
Stat5btm1Mam mutation (0 available); any Stat5b mutation (33 available)
Tg(Alb1-cre)1Dlr mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• reduced lean mass at 8 weeks of age
• reduction in fraction of lean mass at 8 weeks of age
• 12% and 20% smaller for female and male mice respectively, at 8 wk of age
• reduced body length at 8 weeks of age

adipose tissue
• modest increase in body fat at 8 weeks of age

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




Genotype
MGI:5805512
cn19
Allelic
Composition
Myf5tm3(cre)Sor/Myf5+
Sik1tm1.1Berd/Sik1tm1.1Berd
Genetic
Background
involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Sik1tm1.1Berd mutation (0 available); any Sik1 mutation (41 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• mice fed a high fat diet exhibit elevated glucose disposal and skeletal muscle 2-deoxyglucose uptake rates compared with control mice
• mice fed a high fat diet exhibit a slightly weaker insulin response to glucose compared with control mice
• 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
• mice fed a high-fat diet exhibit improved glucose tolerance at late time points compared with control mice
• in mice fed a high-fat diet

muscle
N
• mice exhibit grossly normal muscle structure without evidence of degeneration
• mice fed a high fat diet exhibit elevated skeletal muscle 2-deoxyglucose uptake rates compared with control mice

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




Genotype
MGI:5754730
cn20
Allelic
Composition
Myf5tm3(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:
Myf5tm3(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
• fusions between the first and second costal cartilages




Genotype
MGI:5754731
cn21
Allelic
Composition
Myf5tm3(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:
Myf5tm3(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
• fusions between the first and second costal cartilages, with varying other costal cartilage fusions at E18.5
• fusions between adjoining ribs




Genotype
MGI:5514353
cn22
Allelic
Composition
Fktntm3.1Ttd/Fktntm3.1Ttd
Myf5tm3(cre)Sor/Myf5+
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fktntm3.1Ttd mutation (0 available); any Fktn mutation (44 available)
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mice die by 6 months

muscle
• adult mice exhibit fewer muscle progenitor cells compared with control mice
• however, infection with an Fktn-expressing adenovirus rescues collagen accumulation
• at 4, 8 and 16 weeks
• however, infection with an Fktn-expressing adenovirus rescues nucleus localization
• however, infection with an Fktn-expressing adenovirus rescues muscle weight
• severe in some mice treated with cardiotoxin
• at 16 weeks, but not in young mice
• at 16 weeks
• at 4, 8 and 16 weeks
• adult mice exhibit impaired muscle progenitor cell viability compared with control mice
• 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
• however, infection with an Fktn-expressing adenovirus rescues body weight
• after 2 weeks of age

homeostasis/metabolism

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




Genotype
MGI:5754732
cn23
Allelic
Composition
Myf5tm3(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:
Myf5tm3(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
• fusions between the first and second costal cartilages, with varying other costal cartilage fusions at E18.5
• fusions between adjoining ribs




Genotype
MGI:5754733
cn24
Allelic
Composition
Myf5tm3(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:
Myf5tm3(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
• one mutant exhibits partial homeotic transformation of the maxilla into a mandible

skeleton
• one mutant exhibits partial homeotic transformation of the maxilla into a mandible
• fusions between the first and second costal cartilages, with varying other costal cartilage fusions at E18.5
• fusions between adjoining ribs




Genotype
MGI:5585627
cn25
Allelic
Composition
Kmt2dtm1.1Kaig/Kmt2dtm1.1Kaig
Myf5tm3(cre)Sor/Myf5+
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kmt2dtm1.1Kaig mutation (1 available); any Kmt2d mutation (169 available)
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die immediately after birth due to breathing malfunction

adipose tissue
• moderate defects in brown adipose tissue differentiation in vitro

muscle

respiratory system
• at birth

cellular
• moderate defects in brown adipose tissue differentiation in vitro




Genotype
MGI:6477291
cn26
Allelic
Composition
Zfp422em1Mode/Zfp422em1Mode
Myf5tm3(cre)Sor/Myf5+
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Zfp422em1Mode mutation (0 available); any Zfp422 mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• decreased weight at E17

muscle
• differentiation of isolated myoblasts is impaired with both the differentiation and fusion indices decreased compared to controls
• the shape of the dorsal muscles is not well organized compared to controls at E17
• smaller dorsal muscle myofibers at E17

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




Genotype
MGI:6188641
cn27
Allelic
Composition
Atp11atm1c(KOMP)Wtsi/Atp11atm1c(KOMP)Wtsi
Myf5tm3(cre)Sor/Myf5+
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6JJcl * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp11atm1c(KOMP)Wtsi mutation (0 available); any Atp11a mutation (54 available)
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
N
• mice exhibit normal gross muscle morphology and function (grip strength and treadmill running tests)
• isolated primary myoblasts form aberrantly enlarged syncytia upon differentiation
• abnormally fused myofibers following cardiotoxin-induced regeneration of the tibialis anterior muscle

cellular
• isolated primary myoblasts form aberrantly enlarged syncytia upon differentiation




Genotype
MGI:5304420
cn28
Allelic
Composition
Lbx1tm1.1Khan/Lbx1tm1.1Khan
Myf5tm3(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:
Lbx1tm1.1Khan mutation (0 available); any Lbx1 mutation (13 available)
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• mice exhibit a reduction in limb extensor muscle mass

growth/size/body
• somewhat compared with Lbx1tm1.1Khan homozygotes

cellular




Genotype
MGI:7545142
cn29
Allelic
Composition
Elmo2tm1c(EUCOMM)Hmgu/Elmo2tm1c(EUCOMM)Hmgu
Myf5tm3(cre)Sor/Myf5+
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Elmo2tm1c(EUCOMM)Hmgu mutation (0 available); any Elmo2 mutation (37 available)
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than expected mice are present at weaning




Genotype
MGI:6511296
cn30
Allelic
Composition
Myf5tm3(cre)Sor/Myf5+
Spin1tm1.1Rosc/Spin1tm1.1Rosc
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6N * C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Spin1tm1.1Rosc mutation (0 available); any Spin1 mutation (101 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• about 80% of mice die within 1 day after birth

growth/size/body
• adult mice weigh only around 60% of controls
• adult mice exhibit cachexia

behavior/neurological
• newborns show an absence of milk in the stomach
• newborns exhibit an abnormal posture

limbs/digits/tail
• dropping forelimbs are seen at E16.5
• 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
• 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
• transcriptome analysis indicates aberrant fetal myogenesis
• non-necrotic muscle fibers lack a clear M-line
• transcriptome analysis indicates that the approximate onset of skeletal muscle defects is E15.5
• 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
• 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
• non-necrotic fibers exhibit defects including a low density of contractile material and the lack of a clear M-line
• unusually large muscle fibers are more frequently observed at E15
• number of tibialis anterior fibers is reduced by about 50% in adults
• hindlimb muscles show degenerating, necrotic fibers at E16.5 and in neonates
• adult mice show diaphragm muscle degeneration, with severe muscle fiber degeneration
• 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
• 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
• mice show soleus, tibialis anterior, and diaphragm muscle degeneration in adults
• 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
• adult soleus and tibialis anterior muscles show abnormal collagen deposition indicating fibrosis in adults

nervous system
• 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
• adult surviving mice exhibit severe scoliosis




Genotype
MGI:5435676
cn31
Allelic
Composition
Fktntm1Kcam/Fktntm1Kcam
Myf5tm3(cre)Sor/Myf5+
Genetic
Background
involves: 129S/SvEv * 129S4/SvJaeSor
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fktntm1Kcam mutation (1 available); any Fktn mutation (44 available)
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 11% die before 20 weeks of age even with special feeding
• remainder are dead or euthanized by 35 weeks

growth/size/body
• significantly under weight
• combined gastrocnemius and soleus weight is low

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

homeostasis/metabolism
• elevated at 4 and 8 weeks

behavior/neurological
• 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




Genotype
MGI:3713926
cx32
Allelic
Composition
Myf5tm3(cre)Sor/Myf5tm3(cre)Sor
Myod1tm1Jae/Myod1tm1Jae
Genetic
Background
involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
Myod1tm1Jae mutation (2 available); any Myod1 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• mutant embryos do not form skeletal myotubes





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory