Phenotypes associated with this allele

• Allele Symbol: Myf5⁺
• Allele Name: wild type
• Allele ID: MGI:1857675
• Summary: 50 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Myf5^tm1(cre/Esr1*)Trdo/Myf5^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB	MGI:5509346
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	Myf5^tm1(cre)Mrc/Myf5^+ Myod1^tm1Jae/Myod1^tm1Jae Pax7^tm1.1Thbr/Pax7^tm1.1Thbr	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ	MGI:5548074
cn8	Pax7^tm1.1Thbr/Pax7^tm1.1Thbr Myf5^tm1(cre)Mrc/Myf5^+	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ	MGI:5548073
cn9	Col1a1^tm3(tetO-Mirlet7g/Mir21)Gqda/Col1a1^+ Myf5^tm1(cre)Mrc/Myf5^+	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6	MGI:5519077
cn10	Lin28b^tm1Gqda/Lin28b^tm1Gqda Myf5^tm1(cre)Mrc/Myf5^+	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6	MGI:5519076
cn11	Lin28a^tm1Gqda/Lin28a^tm1Gqda Myf5^tm1(cre)Mrc/Myf5^+	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6	MGI:5519078
cn12	Lin28b^tm1Gqda/Lin28b^tm1Gqda Myf5^tm1(cre)Mrc/Myf5^+ Tsc1^tm1Djk/Tsc1^+	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6	MGI:5519081
cn13	Prox1^tm2Gco/Prox1^tm2Gco Myf5^tm3(cre)Sor/Myf5^+	involves: 129S1/Sv * 129S4/SvJae * C57BL/6J	MGI:5907124
cn14	Bcl9^tm1.1Agt/Bcl9^tm1.1Agt Bcl9l^tm1.1Agt/Bcl9l^tm1.1Agt Myf5^tm1(cre)Mrc/Myf5^+	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ	MGI:4399036
cn15	Gdnf^tm1.1Neas/Gdnf^tm1.1Neas Myf5^tm3(cre)Sor/Myf5^+	involves: 129S1/Sv * 129S4/SvJaeSor * C57BL/6 * SJL	MGI:4456171
cn16	Gt(ROSA)26Sor^tm1(DTA)Mrc/Gt(ROSA)26Sor^+ Myf5^tm1(cre)Mrc/Myf5^+	involves: 129S1/Sv * 129X1/SvJ	MGI:3783871
cn17	Gt(ROSA)26Sor^tm1(DTA)Mrc/Gt(ROSA)26Sor^+ Myf5^tm1.1(cre)Mrc/Myf5^+	involves: 129S1/Sv * 129X1/SvJ	MGI:3783863
cn18	Gt(ROSA)26Sor^tm4(EWSR1/ATF1)Mrc/Gt(ROSA)26Sor^+ Myf5^tm1(cre)Mrc/Myf5^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5495318
cn19	Prdm16^tm1.1Brsp/Prdm16^tm1.1Brsp Myf5^tm1(cre)Mrc/Myf5^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:6107172
cn20	Mecom^tm1Miku/Mecom^tm1Miku Prdm16^tm1.1Brsp/Prdm16^tm1.1Brsp Myf5^tm1(cre)Mrc/Myf5^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6NCrlj * CBA/JCrlj	MGI:6107171
cn21	Myf5^tm3(cre)Sor/Myf5^+ Ntf3^tm2Jae/Ntf3^tm2Jae	involves: 129S1/Sv * C57BL/6	MGI:3843812
cn22	Erbb2^tm1Haus/Erbb2^tm1Klee Gfra1^tm3Jmi/Gfra1^+ Myf5^tm3(cre)Sor/Myf5^+	involves: 129S4/SvJae * 129S4/SvJaeSor * 129X1/SvJ	MGI:4456175
cn23	Erbb2^tm1Haus/Erbb2^tm1Klee Myf5^tm3(cre)Sor/Myf5^+	involves: 129S4/SvJae * C57BL/6	MGI:3843807
cn24	Lin28a^tm1Gqda/Lin28a^tm1Gqda Myf5^tm3(cre)Sor/Myf5^+	involves: 129S4/SvJae * C57BL/6 * CD-1	MGI:5294786
cn25	Myf5^tm3(cre)Sor/Myf5^+ Styxl2^tm1Nju/Styxl2^tm1Nju	involves: 129S4/SvJaeSor	MGI:7781773
cn26	Pax7^tm1.1Thbr/Pax7^tm1.1Thbr Myf5^tm3(cre)Sor/Myf5^+	involves: 129S4/SvJaeSor	MGI:5548075
cn27	Myf5^tm3(cre)Sor/Myf5^+ Tg(CAG-Nog)1Ych/0	involves: 129S4/SvJaeSor	MGI:7345607
cn28	Stat5a^tm2Mam/Stat5a^tm2Mam Stat5b^tm1Mam/Stat5b^tm1Mam Myf5^tm3(cre)Sor/Myf5^+	involves: 129S4/SvJaeSor * 129S6/SvEvTac	MGI:4840214
cn29	Myf5^tm3(cre)Sor/Myf5^+ Stat5b^tm1Mam/Stat5b^tm1Mam	involves: 129S4/SvJaeSor * 129S6/SvEvTac	MGI:4840215
cn30	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
cn31	Myf5^tm3(cre)Sor/Myf5^+ Stat5b^tm1Mam/Stat5b^tm1Mam Tg(Alb1-cre)1Dlr/0	involves: 129S4/SvJaeSor * 129S6/SvEvTac * FVB/N	MGI:4840224
cn32	Myf5^tm3(cre)Sor/Myf5^+ Sik1^tm1.1Berd/Sik1^tm1.1Berd	involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6J * SJL	MGI:5805512
cn33	Myf5^tm3(cre)Sor/Myf5^+ Tg(ACTB-Edn1)721Clou/0	involves: 129S4/SvJaeSor * C57BL/6	MGI:5754730
cn34	Myf5^tm3(cre)Sor/Myf5^+ Tg(ACTB-Edn1)1398Clou/0	involves: 129S4/SvJaeSor * C57BL/6	MGI:5754731
cn35	Myf5^tm3(cre)Sor/Myf5^+ Tg(ACTB-Edn1)1408Clou/0	involves: 129S4/SvJaeSor * C57BL/6	MGI:5754732
cn36	Myf5^tm3(cre)Sor/Myf5^+ Tg(ACTB-Edn1)1416Clou/0	involves: 129S4/SvJaeSor * C57BL/6	MGI:5754733
cn37	Fktn^tm3.1Ttd/Fktn^tm3.1Ttd Myf5^tm3(cre)Sor/Myf5^+	involves: 129S4/SvJaeSor * C57BL/6	MGI:5514353
cn38	Kmt2d^tm1.1Kaig/Kmt2d^tm1.1Kaig Myf5^tm3(cre)Sor/Myf5^+	involves: 129S4/SvJaeSor * C57BL/6J	MGI:5585627
cn39	Zfp422^em1Mode/Zfp422^em1Mode Myf5^tm3(cre)Sor/Myf5^+	involves: 129S4/SvJaeSor * C57BL/6J	MGI:6477291
cn40	Atp11a^tm1c(KOMP)Wtsi/Atp11a^tm1c(KOMP)Wtsi Myf5^tm3(cre)Sor/Myf5^+	involves: 129S4/SvJaeSor * C57BL/6JJcl * C57BL/6N	MGI:6188641
cn41	Lbx1^tm1.1Khan/Lbx1^tm1.1Khan Myf5^tm3(cre)Sor/Myf5^+	involves: 129S4/SvJaeSor * C57BL/6JJcl * C57BL/6NCrlj * CBA/JNCrlj	MGI:5304420
cn42	Elmo2^tm1c(EUCOMM)Hmgu/Elmo2^tm1c(EUCOMM)Hmgu Myf5^tm3(cre)Sor/Myf5^+	involves: 129S4/SvJaeSor * C57BL/6N	MGI:7545142
cn43	Myf5^tm3(cre)Sor/Myf5^+ Spin1^tm1.1Rosc/Spin1^tm1.1Rosc	involves: 129S4/SvJaeSor * C57BL/6N * C57BL/6NTac	MGI:6511296
cn44	Fktn^tm1Kcam/Fktn^tm1Kcam Myf5^tm3(cre)Sor/Myf5^+	involves: 129S/SvEv * 129S4/SvJaeSor	MGI:5435676
cx45	Myf5^tm1Pas/Myf5^+ Myod1^tm1Jae/Myod1^tm1Jae	involves: 129 * C57BL/6 * DBA/2	MGI:3055415
cx46	Myf5^tm2Tajb/Myf5^+ Tbx1^tm1Pa/Tbx1^tm1Pa	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ	MGI:3850163
cx47	Myf5^tm1Jae/Myf5^+ Myf6^tm1Wb/Myf6^+	involves: 129S1/Sv * 129S4/SvJae	MGI:3714407
cx48	Myf5^tm1Jae/Myf5^+ Myf6^tm1Thbr/Myf6^+	involves: 129S4/SvJae	MGI:3714395
cx49	Myf5^tm1Jae/Myf5^+ Myf6^tm1Eno/Myf6^+	involves: 129S4/SvJae * 129S7/SvEvBrd	MGI:3714469
cx50	Lgals1^tm1Rob/Lgals1^tm1Rob Myf5^tm2Pas/Myf5^+	involves: 129S/SvEv * 129S2/SvPas	MGI:3789015

Genotype
MGI:5509346

ht1

• Allelic Composition: Myf5^{tm1(cre/Esr1*)Trdo}/Myf5⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB

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

normal phenotype

no abnormal phenotype detected ( J:199482 )

• mice are viable and fertile with no gross abnormalities

Genotype
MGI:7279103

cn2

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

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

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

• 12-week-old mice exhibit fiber size variation

centrally nucleated skeletal muscle fibers ( J:324289 )

skeletal muscle fiber necrosis ( J:324289 )

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

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

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

Genotype
MGI:7345612

cn3

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

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

Genotype
MGI:6105943

cn4

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

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

Genotype
MGI:7545138

cn5

• 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

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

Genotype
MGI:4879116

cn6

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

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

Genotype
MGI:5548074

cn7

• Allelic Composition: Myf5^tm1(cre)Mrc/Myf5⁺; Myod1^tm1Jae/Myod1^tm1Jae; Pax7^tm1.1Thbr/Pax7^tm1.1Thbr
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

muscle

decreased satellite cell number ( J:202693 )

• more so than in Pax7^tm1.1Thbr/Pax7^tm1.1Thbr Myf5^tm1(cre)Mrc/Myf5⁺ mice at day 110

Genotype
MGI:5548073

cn8

• Allelic Composition: Pax7^tm1.1Thbr/Pax7^tm1.1Thbr; Myf5^tm1(cre)Mrc/Myf5⁺
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

muscle

decreased satellite cell number ( J:202693 )

• at day 110

Genotype
MGI:5519077

cn9

• Allelic Composition: Col1a1^{tm3(tetO-Mirlet7g/Mir21)Gqda}/Col1a1⁺; Myf5^tm1(cre)Mrc/Myf5⁺
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6

growth/size/body

decreased body size ( J:199720 )

• dwarfism in male and female mice

decreased body length ( J:199720 )

Genotype
MGI:5519076

cn10

• Allelic Composition: Lin28b^tm1Gqda/Lin28b^tm1Gqda; Myf5^tm1(cre)Mrc/Myf5⁺
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6

homeostasis/metabolism

impaired glucose tolerance ( J:199720 )

insulin resistance ( J:199720 )

growth/size/body

decreased body size ( J:199720 )

♂ • postnatal dwarfism in male, but not female, mice

muscle

muscle phenotype ( J:199720 )

N • mice exhibit normal muscle histology

Genotype
MGI:5519078

cn11

• Allelic Composition: Lin28a^tm1Gqda/Lin28a^tm1Gqda; Myf5^tm1(cre)Mrc/Myf5⁺
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6

growth/size/body

growth/size/body region phenotype ( J:199720 )

N • mice exhibit normal size

Genotype
MGI:5519081

cn12

• Allelic Composition: Lin28b^tm1Gqda/Lin28b^tm1Gqda; Myf5^tm1(cre)Mrc/Myf5⁺; Tsc1^tm1Djk/Tsc1⁺
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6

growth/size/body

growth/size/body region phenotype ( J:199720 )

N • male mice exhibit normal growth

Genotype
MGI:5907124

cn13

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

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

Genotype
MGI:4399036

cn14

• Allelic Composition: Bcl9^tm1.1Agt/Bcl9^tm1.1Agt; Bcl9l^tm1.1Agt/Bcl9l^tm1.1Agt; Myf5^tm1(cre)Mrc/Myf5⁺
• Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

muscle

abnormal muscle development ( J:154476 )

• myogenic differentiation is impaired in vitro and during regeneration even in the presence of exogenous Wnt3a

decreased skeletal muscle fiber size ( J:154476 )

• after injury

impaired skeletal muscle regeneration ( J:154476 )

• skeletal muscle regeneration is impaired 4 and 6 days after injury with reduced average fiber size and number of regenerating fibers per field of injury and increased apoptosis compared to in similarly treated wild-type mice

• myogenic differentiation during regeneration is inhibited even in the presence of exogenous Wnt3a

Genotype
MGI:4456171

cn15

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

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

Genotype
MGI:3783871

cn16

• Allelic Composition: Gt(ROSA)26Sor^tm1(DTA)Mrc/Gt(ROSA)26Sor⁺; Myf5^tm1(cre)Mrc/Myf5⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

mortality/aging

mortality/aging ( J:133338 )

N • 90% of pups are viable with a normal life span and normal musculature

skeleton

asymmetric sternocostal joints ( J:133338 )

• occasionally

abnormal rib morphology ( J:133338 )

• reduced costochondral and costosternal regions of ribs

• newborns with normal rib cages but occasional anomalies

• floating ribs occasionally misshapen

• occasional osseous knob-like protrusions

rib fusion ( J:133338 )

• occasional fusion of cartillagenous portions of ribs

Genotype
MGI:3783863

cn17

• Allelic Composition: Gt(ROSA)26Sor^tm1(DTA)Mrc/Gt(ROSA)26Sor⁺; Myf5^{tm1.1(cre)Mrc}/Myf5⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

mortality/aging

neonatal lethality, complete penetrance ( J:133338 )

• pups fail to survive after birth

muscle

muscle phenotype ( J:133338 )

N • normal myogenesis

N • both fast and slow fibers with normal morphology

N • functional and utrastructural integrity normal

skeleton

abnormal rib morphology ( J:133338 )

• newborns with severely deformed ribs

Genotype
MGI:5495318

cn18

• Allelic Composition: Gt(ROSA)26Sor^{tm4(EWSR1/ATF1)Mrc}/Gt(ROSA)26Sor⁺; Myf5^tm1(cre)Mrc/Myf5⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

premature death ( J:194308 )

• live to 3 months

growth/size/body

decreased body size ( J:194308 )

• mice are very small

muscle

myopathy ( J:194308 )

• severely myopathic

Genotype
MGI:6107172

cn19

• Allelic Composition: Prdm16^tm1.1Brsp/Prdm16^tm1.1Brsp; Myf5^tm1(cre)Mrc/Myf5⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

adipose tissue

decreased body fat mass ( J:213153 )

abnormal brown adipose tissue morphology ( J:213153 )

• pale axillary and cervical brown adipose tissue depots

• however, tissue mass is not altered

increased brown fat cell lipid droplet size ( J:213153 )

• in the interscapular brown adipose tissue of mice older than 6 months

decreased brown fat lipid droplet number ( J:213153 )

• in the interscapular brown adipose tissue of mice older than 6 months

whitened brown adipose tissue morphology ( J:213153 )

• whitening in mice older than 6 months with increased size of the tissue, a switch from multilocular to unilocular morphology, and increased lipid content

decreased fat cell mitochondrial DNA content ( J:213153 )

• in unstimulated interscapular brown adipose tissue

abnormal interscapular fat pad morphology ( J:213153 )

• whitening in mice older than 6 months with increased size of the tissue, a switch from multilocular to unilocular morphology, and increased lipid content

• 3 week old mice fed a high-fat diet exhibit loss of normal brown adipocyte morphology unlike wild-type mice

increased interscapular fat pad weight ( J:213153 )

• in mice older than 6 months

• however, juvenile mice exhibit normal sized brown adipose tissue depots

abnormal brown adipose tissue thermogenesis ( J:213153 )

• precipitous drop in body temperature following exposure to cold

• however, diet-induced thermogenesis is normal

homeostasis/metabolism

impaired adaptive thermogenesis ( J:213153 )

• precipitous drop in body temperature following exposure to cold

abnormal oxygen consumption ( J:213153 )

improved glucose tolerance ( J:213153 )

growth/size/body

decreased body fat mass ( J:213153 )

decreased lean body mass ( J:213153 )

decreased body weight ( J:213153 )

• at all ages

decreased body length ( J:213153 )

cellular

decreased fat cell mitochondrial DNA content ( J:213153 )

• in unstimulated interscapular brown adipose tissue

decreased mitochondrial number ( J:213153 )

• with poorly organized cristae in unstimulated interscapular brown adipose tissue

abnormal cellular respiration ( J:213153 )

• reduced basal in interscapular brown adipose tissue

Genotype
MGI:6107171

cn20

• Allelic Composition: Mecom^tm1Miku/Mecom^tm1Miku; Prdm16^tm1.1Brsp/Prdm16^tm1.1Brsp; Myf5^tm1(cre)Mrc/Myf5⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6NCrlj * CBA/JCrlj

adipose tissue

increased brown fat cell lipid droplet size ( J:213153 )

• in the interscapular brown adipose tissue of mice older than 6 months

abnormal interscapular fat pad morphology ( J:213153 )

• pale in 3 month old mice

Genotype
MGI:3843812

cn21

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

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

Genotype
MGI:4456175

cn22

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

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

Genotype
MGI:3843807

cn23

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

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 )

• 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

Genotype
MGI:5294786

cn24

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

homeostasis/metabolism

impaired glucose tolerance ( J:177113 )

insulin resistance ( J:177113 )

Genotype
MGI:7781773

cn25

• Allelic Composition: Myf5^tm3(cre)Sor/Myf5⁺; Styxl2^tm1Nju/Styxl2^tm1Nju
• Genetic Background: involves: 129S4/SvJaeSor

mortality/aging

neonatal lethality, complete penetrance ( J:351096 )

• all homozygous pups die within 1 day after birth

muscle

abnormal sarcomere morphology ( J:351096 )

• at P1, TEM analysis showed severe disruption of the sarcomere structures in skeletal muscles

• however, some residual sarcomeres are still present in skeletal muscles

Genotype
MGI:5548075

cn26

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

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 )

Genotype
MGI:7345607

cn27

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

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

Genotype
MGI:4840214

cn28

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

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

Genotype
MGI:4840215

cn29

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

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

Genotype
MGI:4840222

cn30

• 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

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

Genotype
MGI:4840224

cn31

• 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

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

Genotype
MGI:5805512

cn32

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

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 skeletal 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 skeletal muscle cell glucose uptake ( J:236223 )

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

Genotype
MGI:5754730

cn33

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

skeleton

abnormal costal cartilage morphology ( J:221133 )

• fusions between the first and second costal cartilages

Genotype
MGI:5754731

cn34

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

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

Genotype
MGI:5754732

cn35

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

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

Genotype
MGI:5754733

cn36

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

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

Genotype
MGI:5514353

cn37

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

mortality/aging

premature death ( J:198535 )

• most mice die by 6 months

muscle

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

skeletal muscle necrosis ( J:198535 )

• at 4, 8 and 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

Genotype
MGI:5585627

cn38

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

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

Genotype
MGI:6477291

cn39

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

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

Genotype
MGI:6188641

cn40

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

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

Genotype
MGI:5304420

cn41

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

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

Genotype
MGI:7545142

cn42

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:331473 )

• fewer than expected mice are present at weaning

Genotype
MGI:6511296

cn43

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

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

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

skeletal muscle fiber necrosis ( J:302851 )

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

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

Genotype
MGI:5435676

cn44

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

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

Genotype
MGI:3055415

cx45

• Allelic Composition: Myf5^tm1Pas/Myf5⁺; Myod1^tm1Jae/Myod1^tm1Jae
• Genetic Background: involves: 129 * C57BL/6 * DBA/2

mortality/aging

postnatal lethality ( J:92799 )

Genotype
MGI:3850163

cx46

• Allelic Composition: Myf5^tm2Tajb/Myf5⁺; Tbx1^tm1Pa/Tbx1^tm1Pa
• Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

muscle

abnormal pharyngeal muscle morphology ( J:150130 )

• mice exhibit sporadic asymmetric first-arch-derived muscles unlike in wild-type mice

respiratory system

abnormal pharyngeal muscle morphology ( J:150130 )

• mice exhibit sporadic asymmetric first-arch-derived muscles unlike in wild-type mice

Genotype
MGI:3714407

cx47

• Allelic Composition: Myf5^tm1Jae/Myf5⁺; Myf6^tm1Wb/Myf6⁺
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae

mortality/aging

perinatal lethality, complete penetrance ( J:42453 )

• double heterozygous mice in which the Myf5 and Myf6 alleles are on different chromosomes show severely reduced expression of Myf5 and die at birth due to respiratory distress

respiratory system

respiratory distress ( J:42453 )

skeleton

abnormal sternebra morphology ( J:42453 )

• sternum shows irregular ossification of sternebrae

abnormal sternocostal joint morphology ( J:42453 )

• none of the first seven ribs are attached to the sternum

abnormal rib morphology ( J:42453 )

rib bifurcation ( J:42453 )

rib fusion ( J:42453 )

• fusion of adjacent ribs

short ribs ( J:42453 )

• short ribs; ribs are shorter than in wild-type or Myf6 homozygotes but longer than the stubs of Myf5 homozygotes

muscle

abnormal myotome development ( J:42453 )

• myotomes are disorganized at E10.5

Genotype
MGI:3714395

cx48

• Allelic Composition: Myf5^tm1Jae/Myf5⁺; Myf6^tm1Thbr/Myf6⁺
• Genetic Background: involves: 129S4/SvJae

mortality/aging

perinatal lethality, complete penetrance ( J:31636 )

• double heterozygous mice that carry the Myf5 and Myf6 alleles on different chromosomes and express drastically reduced levels of Myf5 mRNA do not survive to weaning and when delivered by cesarean section at E18.5, the pups die within a few minutes after delivery

skeleton

short ribs ( J:31636 )

• mutants lack the distal parts of the ribs

• the average rib length is between that of Myf6 and Myf5 homozygotes

Genotype
MGI:3714469

cx49

• Allelic Composition: Myf5^tm1Jae/Myf5⁺; Myf6^tm1Eno/Myf6⁺
• Genetic Background: involves: 129S4/SvJae * 129S7/SvEvBrd

mortality/aging

perinatal lethality, incomplete penetrance ( J:42453 )

• 63% of double heterozygous mice, in which the Myf5 and Myf6 alleles are on different chromosomes and show severely reduced expression of Myf5, die immediately after birth; the rest survive

skeleton

abnormal sternocostal joint morphology ( J:42453 )

• attachment failure of at least one rib to the sternum is seen in most mutants, although the identity of the affected rib(s) and the number of ribs affected varies

abnormal rib morphology ( J:42453 )

• abnormal ribs

muscle

abnormal myotome development ( J:42453 )

• number of myocytes in the myotomes is reduced at E10.5 and the conformation of the myotome is abnormal

Genotype
MGI:3789015

cx50

• Allelic Composition: Lgals1^tm1Rob/Lgals1^tm1Rob; Myf5^tm2Pas/Myf5⁺
• Genetic Background: involves: 129S/SvEv * 129S2/SvPas

muscle

delayed muscle development ( J:119480 )

• mice exhibit a delay in muscle development

• cultured myoblasts exhibit impaired fusion compared to in wild-type myoblasts

abnormal skeletal muscle fiber morphology ( J:119480 )

• myonuclear numbers are decreased

decreased skeletal muscle fiber diameter ( J:119480 )

• adult mice exhibit a 22% reduction in muscle fiber diameter

delayed skeletal muscle regeneration ( J:119480 )

• increase of medium diameter fiber class is delayed after cardiotoxin injury and small tibialis anterior (TA) muscle fibers are prominent up to day 21, whereas large fibers are rarely observed