All Phenotypes Mstn<tm1Sjl> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Mstn^tm1Sjl
targeted mutation 1, Se-Jin Lee
MGI:2148177

Summary

10 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mstn^tm1Sjl/Mstn^tm1Sjl	B6N.129-Mstn^tm1Sjl	MGI:3789915
hm2	Mstn^tm1Sjl/Mstn^tm1Sjl	involves: 129S1/Sv * 129X1/SvJ	MGI:4438574
hm3	Mstn^tm1Sjl/Mstn^tm1Sjl	involves: 129S1/Sv * 129X1/SvJ * BALB/c	MGI:3716433
hm4	Mstn^tm1Sjl/Mstn^tm1Sjl	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3714749
hm5	Mstn^tm1Sjl/Mstn^tm1Sjl	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1	MGI:3714765
ht6	Mstn^tm1Sjl/Mstn⁺	B6N.129-Mstn^tm1Sjl	MGI:5902425
cx7	Fst^tm1Zuk/Fst⁺ Mstn^tm1Sjl/Mstn^tm1Sjl	B6.129-Mstn^tm1Sjl Fst^tm1Zuk	MGI:5319776
cx8	Fst^tm1Zuk/Fst⁺ Mstn^tm1Sjl/Mstn⁺	B6.129-Mstn^tm1Sjl Fst^tm1Zuk	MGI:5319777
cx9	Gdf11^tm1Sjl/Gdf11^tm1Sjl Mstn^tm1Sjl/Mstn^tm1Sjl	involves: 129S1/Sv * 129X1/SvJ	MGI:4438573
cx10	Gdf11^tm1Sjl/Gdf11^tm1Sjl Mstn^tm1Sjl/Mstn⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:4438572

Allelic Composition	Mstn^tm1Sjl/Mstn^tm1Sjl
Genetic Background	B6N.129-Mstn^tm1Sjl

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mstn^tm1Sjl mutation (2 available); any Mstn mutation (21 available)

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

homeostasis/metabolism

abnormal hormone level ( J:240862 )

• consistent with this being a null allele, no myostatin was detected in serum

muscle

increased skeletal muscle fiber diameter ( J:132807 )

• mean fiber diameter at the widest point of the muscles is increased by 16%

increased skeletal muscle fiber number ( J:132807 )

• 48% increase in total muscle fiber number

increased skeletal muscle mass ( J:132807 )

• increase in gastrocnemius/plantaris muscle mass

Allelic Composition	Mstn^tm1Sjl/Mstn^tm1Sjl
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mstn^tm1Sjl mutation (2 available); any Mstn mutation (21 available)

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

muscle

abnormal skeletal muscle fiber morphology ( J:158173 )

• in the extensor digitorum longus, mice exhibit an increase in type IIB and a decrease in type IIA and type IID/X muscle fibers compared with wild-type mice

• in the soleus muscle, mice exhibit an increase in typeIIA, IID/X, and IIB and a decrease in type I muscle fibers compared with wild-type mice

increased skeletal muscle fiber number ( J:158173 )

• in the extensor digitorum longus and soleus muscle

Allelic Composition	Mstn^tm1Sjl/Mstn^tm1Sjl
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * BALB/c

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mstn^tm1Sjl mutation (2 available); any Mstn mutation (21 available)

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

growth/size/body

increased heart weight ( J:122391 )

• heart weights are 24% higher than in wild-type

• however, ejection fraction does not differ from wild-type

cardiovascular system

increased heart weight ( J:122391 )

• heart weights are 24% higher than in wild-type

• however, ejection fraction does not differ from wild-type

Allelic Composition	Mstn^tm1Sjl/Mstn^tm1Sjl
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mstn^tm1Sjl mutation (2 available); any Mstn mutation (21 available)

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

growth/size/body

abnormal postnatal growth/weight/body size ( J:40054 )

• abnormal body shape, with pronounced shoulders and hips

increased body size ( J:40054 )

• 30% larger

increased body weight ( J:75178 )

• significantly higher body weights at 4, 5, and 6 weeks of age

muscle

increased skeletal muscle fiber size ( J:40054 )

• mean fiber diameter of the tibilais cranialis muscle and gastrocnemius muscle is 7% and 22% larger, respectively, than in wild-type, indicating muscle cell hypertrophy

increased skeletal muscle fiber number ( J:40054 )

• at the widest portion of the tibialis cranialis muscle, the total cell number is 86% higher than in wild-type, indicating muscle cell hyperplasia

increased muscle weight ( J:40054 )

• individual muscles weight 2-3 times more than of wild-type

increased skeletal muscle mass ( J:40054 )

• large and widespread increase in skeletal muscle mass

increased skeletal muscle size ( J:75178 )

• gluteus muscle is larger at 8 and 12 weeks of age

adipose tissue

decreased total body fat amount ( J:75178 )

• at 12 weeks of age, show decreased fat depots

decreased epididymal fat pad weight ( J:75178 )

• weight is lighter at 8 and 12 weeks of age

decreased inguinal fat pad weight ( J:75178 )

• weight is lighter at 4, 8, and 12 weeks of age

decreased retroperitoneal fat pad weight ( J:75178 )

• weight is lighter at 12 weeks of age

decreased parametrial fat pad weight ( J:75178 )

• parametrial fat pads are lighter at 8 weeks of age

behavior/neurological

increased food intake ( J:75178 )

• food intake is higher, but only at 4 and 7 weeks of age

homeostasis/metabolism

decreased circulating leptin level ( J:75178 )

• serum leptin concentration is lower at 4 and 12 weeks of age but not at 8 weeks of age

abnormal lipid level ( J:75178 )

• at 12 weeks of age, lipid content is lower

liver/biliary system

decreased liver weight ( J:75178 )

• liver weights as a proportion of total body weight of mutants are less than those of wild-type at 4, 8, and 12 weeks of age

renal/urinary system

decreased kidney weight ( J:75178 )

• kidney weights as a proportion of total body weight of mutants are less than those of wild-type at 4 and 8 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myostatin-related muscle hypertrophy		DOID:0111072	OMIM:614160	J:40054

Allelic Composition	Mstn^tm1Sjl/Mstn^tm1Sjl
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mstn^tm1Sjl mutation (2 available); any Mstn mutation (21 available)

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

muscle

increased quadriceps weight ( J:105955 )

• quadriceps muscles are about 60% larger than those of controls

skeleton

abnormal femur morphology ( J:105955 )

• femoral midshafts are broader mediolaterally and are reduced anteroposteriorly

abnormal trochanter morphology ( J:105955 )

• the third trochanters are expanded mediolaterally compared with wild-type

short femur ( J:105955 )

• femurs are about 3% shorter

increased bone mineral content ( J:105955 )

• femurs show a 10% and 20% increase in cortical bone mineral content in the midshaft and the metaphysis, respectively

increased bone mineral density of femur ( J:105955 )

• femurs (midshaft and distal metaphysis) show an increase in cortical bone mineral density

increased compact bone thickness ( J:105955 )

• 10% greater cortical bone thickness

limbs/digits/tail

abnormal femur morphology ( J:105955 )

• femoral midshafts are broader mediolaterally and are reduced anteroposteriorly

abnormal trochanter morphology ( J:105955 )

• the third trochanters are expanded mediolaterally compared with wild-type

short femur ( J:105955 )

• femurs are about 3% shorter

increased quadriceps weight ( J:105955 )

• quadriceps muscles are about 60% larger than those of controls

Allelic Composition	Mstn^tm1Sjl/Mstn⁺
Genetic Background	B6N.129-Mstn^tm1Sjl

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mstn^tm1Sjl mutation (2 available); any Mstn mutation (21 available)

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

homeostasis/metabolism

abnormal hormone level ( J:240862 )

• haploinsufficiency is found, with heterozygotes having approximately half normal levels of serum myostatin in both females and males

Allelic Composition	Fst^tm1Zuk/Fst⁺ Mstn^tm1Sjl/Mstn^tm1Sjl
Genetic Background	B6.129-Mstn^tm1Sjl Fst^tm1Zuk

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fst^tm1Zuk mutation (2 available); any Fst mutation (14 available)
Mstn^tm1Sjl mutation (2 available); any Mstn mutation (21 available)

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

muscle

decreased skeletal muscle weight ( J:182827 )

• relative to mice homoozygous for Mstn^tm1Sjl alone

Allelic Composition	Fst^tm1Zuk/Fst⁺ Mstn^tm1Sjl/Mstn⁺
Genetic Background	B6.129-Mstn^tm1Sjl Fst^tm1Zuk

Find Mice

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

muscle

decreased skeletal muscle weight ( J:182827 )

• relative to mice heterozygous for Mstn^tm1Sjl alone

growth/size/body

decreased body weight ( J:182827 )

• relative to mice heterozygous for Mstn^tm1Sjl alone

Allelic Composition	Gdf11^tm1Sjl/Gdf11^tm1Sjl Mstn^tm1Sjl/Mstn^tm1Sjl
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdf11^tm1Sjl mutation (0 available); any Gdf11 mutation (10 available)
Mstn^tm1Sjl mutation (2 available); any Mstn mutation (21 available)

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

Skeletal defects in Gdf11^tm1Sjl/Gdf11^tm1Sjl and Mstn^tm1Sjl/Mstn^tm1Sjl Gdf11^tm1Sjl/Gdf11^tm1Sjl newborn mice

mortality/aging

perinatal lethality, complete penetrance ( J:158173 )

• although present in Mendelian ratios, no mice are born alive

skeleton

abnormal frontal bone morphology ( J:158173 )

• frontal bones curve anterior to meet the nasal bone unlike in wild-type mice and Gdf11^tm1Sjl homozygotes

domed cranium ( J:158173 )

abnormal pectoral girdle bone morphology ( J:158173 )

• 9 of 18 mice exhibit an extra bone projected from the shoulder unlike in wild-type mice

• 2 of the mice with a third forelimb exhibit an extra bone in the contralateral shoulder unlike wild-type mice

abnormal vertebrae morphology ( J:158173 )

• most posterior vertebrae are malformed compared to in wild-type mice

abnormal thoracic vertebrae morphology ( J:158173 )

• in 4 of 17 mice with 20 thoracic vertebrae, the most posterior thoracic vertebra are asymmetric with the 21rst on one side and a lumbar-like on the other side

increased thoracic vertebrae number ( J:158173 )

• 4 of 17 mice have 20 thoracic vertebrae compared to 13 in wild-type mice

absent sacral vertebrae ( J:158173 )

decreased vertebrae number ( J:158173 )

• mice have fewer post-thoracic vertebrate, namely 10, compared to in wild-type mice

vertebral transformation ( J:158173 )

• mice exhibit anterior vertebral transformation

limbs/digits/tail

abnormal limb morphology ( J:158173 )

• mice exhibit small projections from the skin on the ventral surface of the torso, some of which are filled with a single rod of cartilage unlike in wild-type mice

• 9 of 18 mice exhibit an extra bone projected from the shoulder unlike in wild-type mice

polydactyly ( J:158173 )

• of digit V

syndactyly ( J:158173 )

• between digits III and IV

abnormal forelimb morphology ( J:158173 )

• forelimbs are shorter than in Gdf11^tm1Sjl homozygotes

• 6 of 18 mice exhibit a third limb resembling the forelimb composed of a single unidentifiable long bone with attached digits unlike in wild-type mice

• 2 of the mice with a third forelimb exhibit an extra bone in the contralateral shoulder unlike wild-type mice

abnormal hindlimb morphology ( J:158173 )

• mice exhibit small and deformed hindlimbs compared to in wild-type mice

• however, proximal/distal patterning of the hindlimb is relatively normal

renal/urinary system

absent kidney ( J:158173 )

• in all mice

craniofacial

abnormal frontal bone morphology ( J:158173 )

• frontal bones curve anterior to meet the nasal bone unlike in wild-type mice and Gdf11^tm1Sjl homozygotes

domed cranium ( J:158173 )

cleft palate ( J:158173 )

• in all mice

digestive/alimentary system

cleft palate ( J:158173 )

• in all mice

growth/size/body

cleft palate ( J:158173 )

• in all mice

Allelic Composition	Gdf11^tm1Sjl/Gdf11^tm1Sjl Mstn^tm1Sjl/Mstn⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

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

skeleton

increased thoracic vertebrae number ( J:158173 )

• mice have 17 to 19 thoracic vertebrae compared to 13 in wild-type mice

increased lumbar vertebrae number ( J:158173 )

• mice have 7 to 9 lumbar vertebrae compared to 6 in wild-type mice

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