ENSMUSG00000031337


Mus musculus

Features
Gene ID: ENSMUSG00000031337
  
Biological name :Mtm1
  
Synonyms : Mtm1 / Q9Z2C5 / X-linked myotubular myopathy gene 1
  
Possible biological names infered from orthology : myotubularin 1 / Q13496
  
Species: Mus musculus
  
Chr. number: X
Strand: 1
Band: A7.3
Gene start: 71210767
Gene end: 71315691
  
Corresponding Affymetrix probe sets: 10599976 (MoGene1.0st)   1416934_at (Mouse Genome 430 2.0 Array)   1434278_at (Mouse Genome 430 2.0 Array)   1454904_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000125798
Ensembl peptide - ENSMUSP00000110264
Ensembl peptide - ENSMUSP00000110268
Ensembl peptide - ENSMUSP00000025391
Ensembl peptide - ENSMUSP00000033700
Ensembl peptide - ENSMUSP00000057182
Ensembl peptide - ENSMUSP00000099040
NCBI entrez gene - 17772     See in Manteia.
MGI - MGI:1099452
RefSeq - XM_017318416
RefSeq - NM_001164190
RefSeq - NM_001164191
RefSeq - NM_001164192
RefSeq - NM_001164193
RefSeq - NM_019926
RefSeq - XM_006527890
RefSeq - XM_006527891
RefSeq Peptide - NP_001157664
RefSeq Peptide - NP_001157665
RefSeq Peptide - NP_064310
RefSeq Peptide - NP_001157662
RefSeq Peptide - NP_001157663
swissprot - B1AW21
swissprot - Q3UDN6
swissprot - Q9Z2C5
Ensembl - ENSMUSG00000031337
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mtm1ENSDARG00000037560Danio rerio
 MTM1ENSGALG00000009096Gallus gallus
 MTM1ENSG00000171100Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Mtmr2 / Q9Z2D1 / Myotubularin-related protein 2 / Q13614*ENSMUSG0000003191863
Mtmr1 / Q9Z2C4 / Myotubularin-related protein 1 / Q13613*ENSMUSG0000001521458
Mtmr3 / myotubularin related protein 3 / Q13615*ENSMUSG0000003435434
Mtmr6 / Q8VE11 / Myotubularin-related protein 6 / Q9Y217*ENSMUSG0000002198734
Mtmr4 / Q91XS1 / Mus musculus myotubularin related protein 4 (Mtmr4), transcript variant 2, mRNA. / Q9NYA4* / myotubularin related protein 4*ENSMUSG0000001840133
Mtmr7 / Q9Z2C9 / Myotubularin-related protein 7 / Q9Y216*ENSMUSG0000003943133
Mtmr9 / Q9Z2D0 / Myotubularin-related protein 9 / Q96QG7*ENSMUSG0000003507828
Sbf1 / Q6ZPE2 / SET binding factor 1 / O95248*ENSMUSG0000003652928
Sbf2 / SET binding factor 2 / Q86WG5*ENSMUSG0000003837127


Protein motifs (from Interpro)
Interpro ID Name
 IPR000387  Tyrosine specific protein phosphatases domain
 IPR003595  Protein-tyrosine phosphatase, catalytic
 IPR004182  GRAM domain
 IPR010569  Myotubularin-like phosphatase domain
 IPR011993  PH-like domain superfamily
 IPR016130  Protein-tyrosine phosphatase, active site
 IPR029021  Protein-tyrosine phosphatase-like
 IPR030561  Myotubularin
 IPR030564  Myotubularin family


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006470 protein dephosphorylation ISS
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0008333 endosome to lysosome transport ISO
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016311 dephosphorylation IEA
 biological_processGO:0032007 negative regulation of TOR signaling IMP
 biological_processGO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
 biological_processGO:0035335 peptidyl-tyrosine dephosphorylation IEA
 biological_processGO:0044088 regulation of vacuole organization ISO
 biological_processGO:0045109 intermediate filament organization ISS
 biological_processGO:0046716 muscle cell cellular homeostasis IMP
 biological_processGO:0046856 phosphatidylinositol dephosphorylation ISO
 biological_processGO:0048311 mitochondrion distribution ISO
 biological_processGO:0048633 positive regulation of skeletal muscle tissue growth IMP
 biological_processGO:0051898 negative regulation of protein kinase B signaling IMP
 biological_processGO:0070584 mitochondrion morphogenesis IMP
 biological_processGO:1902902 negative regulation of autophagosome assembly IMP
 cellular_componentGO:0001726 ruffle ISS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005770 late endosome ISS
 cellular_componentGO:0005829 cytosol ISO
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030175 filopodium ISS
 cellular_componentGO:0031674 I band IDA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0004438 phosphatidylinositol-3-phosphatase activity ISO
 molecular_functionGO:0004721 phosphoprotein phosphatase activity ISO
 molecular_functionGO:0004725 protein tyrosine phosphatase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016791 phosphatase activity IEA
 molecular_functionGO:0019215 intermediate filament binding ISO
 molecular_functionGO:0035091 phosphatidylinositol binding ISS
 molecular_functionGO:0052629 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity ISO


Pathways (from Reactome)
Pathway description
Synthesis of PIPs at the plasma membrane
Synthesis of PIPs at the early endosome membrane
Synthesis of PIPs at the late endosome membrane


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Mettm1Cpo/Mettm2Cpo
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0000748 progressive muscle weakness "increasing loss of strength over time" [MGI:CLS, J:67994]
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Allelic Composition: Mettm1Cpo/Mettm2Cpo
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Mtm1tm1Itl/Y
Genetic Background: B6.Cg-Mtm1tm1Itl

 MP:0000751 myopathy "any abnormal condition or disease of the skeletal muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:42574]
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Allelic Composition: Mettm1Cpo/Mettm2Cpo
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Mtm1tm1.2Jman/Y,Tg(ACTA1-cre)79Jme/?
Genetic Background: involves: 129T1/Sv * C57BL/6 * SJL

Allelic Composition: Mtm1Gt(OST290577)Lex/Y
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0000755 hindlimb paralysis "loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Mettm1Cpo/Mettm2Cpo
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Mtm1tm1Itl/Y
Genetic Background: B6.Cg-Mtm1tm1Itl

Allelic Composition: Mtm1Gt(OST290577)Lex/Y
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
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Allelic Composition: Mettm1Cpo/Mettm2Cpo
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Mtm1tm1Itl/Y
Genetic Background: B6.Cg-Mtm1tm1Itl

 MP:0001529 abnormal vocalization "an inability, decreased ability or altered ability to produce sound from the vocal organs; or a general increase or decrease in the production of vocal sound" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator, J:85479]
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Allelic Composition: Brca1tm1Brn/Brca1tm1Brn,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * FVB/N

 MP:0001544 abnormal cardiovascular system physiology "anomalous function of the blood, blood vessels, and/or the heart" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Brca1tm1Brn/Brca1tm1Brn,Trp53tm1Brn/Trp53tm1Brn,Tg(KRT14-cre)8Brn/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * FVB/N

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Mettm1Cpo/Mettm2Cpo
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Mtm1tm1.2Jman/Y,Tg(ACTA1-cre)79Jme/?
Genetic Background: involves: 129T1/Sv * C57BL/6 * SJL

 MP:0001922 reduced male fertility "reduced ability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61340]
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Allelic Composition: Mtm1tm1Itl/Y
Genetic Background: B6.Cg-Mtm1tm1Itl

 MP:0001954 respiratory distress "physical difficulty or inability to breathe" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]
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Allelic Composition: Mettm1Cpo/Mettm2Cpo
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Mtm1tm1Itl/Y
Genetic Background: B6.Cg-Mtm1tm1Itl

 MP:0002066 abnormal motor capabilities/coordination/movement "altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mettm1Cpo/Mettm2Cpo
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mettm1Cpo/Mettm2Cpo
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Mtm1tm1.2Jman/Y,Tg(ACTA1-cre)79Jme/?
Genetic Background: involves: 129T1/Sv * C57BL/6 * SJL

Allelic Composition: Mtm1tm1Itl/Y
Genetic Background: B6.Cg-Mtm1tm1Itl

 MP:0002106 abnormal muscle physiology "anomolous function of the muscle, not due to an anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mettm1Cpo/Mettm2Cpo
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0002133 abnormal respiratory system physiology "anomalous function of the pulmonary system; inability or reduced ability to intake and exchange oxygen and carbon dioxide with the environment" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mtm1tm1Itl/Y
Genetic Background: B6.Cg-Mtm1tm1Itl

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mtm1tm1.2Jman/Y,Tg(ACTA1-cre)79Jme/?
Genetic Background: involves: 129T1/Sv * C57BL/6 * SJL

 MP:0002269 muscular atrophy "a wasting of muscle tissue resulting in a derangement of the muscle fibers; occurs with age, immobilization, weightlessness, malnutrition or denervation" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Mettm1Cpo/Mettm2Cpo
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0002757 reduced vertical activity "lesser than average time spent jumping or rearing" [J:82829, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Mettm1Cpo/Mettm2Cpo
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0003082 abnormal gastrocnemius morphology "anomaly in the the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Mtm1tm1Itl/Y
Genetic Background: B6.Cg-Mtm1tm1Itl

 MP:0003084 abnormal skeletal muscle fiber morphology "anomalous structure of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Mettm1Cpo/Mettm2Cpo
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0003674 oxidative stress "condition characterized by an accumulation of free radical groups in the body, which creates a potentially unstable and damaging cellular environment linked to tissue damage, accelerated aging, and degenerative disease; can result from many factors, including exposure to alcohol, medications, poor nutrition, trauma, cold or toxins; may be indicated by low antioxidant levels measured in blood plasma" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Mtm1Gt(OST290577)Lex/Y
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0004091 abnormal Z lines "any structural abnormality in the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Mtm1Gt(OST290577)Lex/Y
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0004232 decreased muscle weight "less than average muscle weight" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mtm1Gt(OST290577)Lex/Y
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0004262 abnormal physical strength "altered ability of an organism to exert force on physical objects or of the body to support its load" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mettm1Cpo/Mettm2Cpo
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0004819 decreased skeletal muscle mass "reduction in the physical bulk, or total amount of matter contained within skeletal muscle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mtm1tm1Itl/Y
Genetic Background: B6.Cg-Mtm1tm1Itl

 MP:0005150 cachexia "general weight loss and wasting occurring in the course of chronic disease" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Mettm1Cpo/Mettm2Cpo
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0005659 resistance to diet-induced obesity "less likely to become excessively fat or to increase fat in the subcutaneous connective tissue as a result of consuming a diet geared to increase body fat " [cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator]
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Allelic Composition: Mtm1tm1Itl/Y
Genetic Background: B6.Cg-Mtm1tm1Itl

 MP:0006036 abnormal mitochondrial physiology 
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Allelic Composition: Mtm1Gt(OST290577)Lex/Y
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0008260 abnormal autophagy "abnormal catabolic process involving the degradation of a cell s own components through the lysosomal machinery" [MGI:honda "Hiraoki Onda, Mouse Genome Informatics Curator"]
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Allelic Composition: Mtm1Gt(OST290577)Lex/Y
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0009400 decreased skeletal muscle fiber size "decrease in the size of the large multinucleated cells that make up the skeletal muscles" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mtm1tm1Itl/Y
Genetic Background: B6.Cg-Mtm1tm1Itl

Allelic Composition: Mtm1Gt(OST290577)Lex/Y
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0009403 increased variability of skeletal muscle fiber size "greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mtm1tm1Itl/Y
Genetic Background: B6.Cg-Mtm1tm1Itl

 MP:0009404 centrally nucleated skeletal muscle fibers "cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mtm1tm1.2Jman/Y,Tg(ACTA1-cre)79Jme/?
Genetic Background: involves: 129T1/Sv * C57BL/6 * SJL

Allelic Composition: Mtm1tm1Itl/Y
Genetic Background: B6.Cg-Mtm1tm1Itl

Allelic Composition: Mtm1Gt(OST290577)Lex/Y
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0009413 skeletal muscle fiber atrophy "a wasting of skeletal muscle fibers resulting in a derangement of the skeletal muscle fibers; occurs with age, immobilization, weightlessness, malnutrition or denervation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mtm1tm1.2Jman/Y,Tg(ACTA1-cre)79Jme/?
Genetic Background: involves: 129T1/Sv * C57BL/6 * SJL

 MP:0009417 skeletal muscle atrophy "a wasting of skeletal muscle tissue resulting in a derangement of the muscle fibers; occurs with age, immobilization, weightlessness, malnutrition or denervation" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Mettm1Cpo/Mettm2Cpo
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Mtm1tm1Itl/Y
Genetic Background: B6.Cg-Mtm1tm1Itl

 MP:0009422 decreased gastrocnemius weight "reduction in the weight of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Mettm1Cpo/Mettm2Cpo
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Mtm1tm1Itl/Y
Genetic Background: B6.Cg-Mtm1tm1Itl

 MP:0009428 decreased tibialis anterior weight "redcution in the weight of the muscle of the shin that is responsible for dorsiflexion and inversion of the foot" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Mtm1tm1Itl/Y
Genetic Background: B6.Cg-Mtm1tm1Itl

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
Show

Allelic Composition: Mettm1Cpo/Mettm2Cpo
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Mtm1Gt(OST290577)Lex/Y
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

 MP:0010227 decreased quadriceps weight "reduction in the weight of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mtm1tm1Itl/Y
Genetic Background: B6.Cg-Mtm1tm1Itl

 MP:0011090 partial perinatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Mettm1Cpo/Mettm2Cpo
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000039458 Mtmr12 / Q80TA6 / Mus musculus myotubularin related protein 12 (Mtmr12), transcript variant 2, mRNA. / Q9C0I1* / myotubularin related protein 12*  / complex / reaction






 

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