ENSMUSG00000042292


Mus musculus

Features
Gene ID: ENSMUSG00000042292
  
Biological name :Mkl1
  
Synonyms : Mkl1 / MKL/myocardin-like protein 1 / Q8K4J6
  
Possible biological names infered from orthology : megakaryoblastic leukemia (translocation) 1 / Q969V6
  
Species: Mus musculus
  
Chr. number: 15
Strand: -1
Band: E1
Gene start: 81012281
Gene end: 81190757
  
Corresponding Affymetrix probe sets: 10430693 (MoGene1.0st)   1434900_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000118451
Ensembl peptide - ENSMUSP00000120116
Ensembl peptide - ENSMUSP00000119530
Ensembl peptide - ENSMUSP00000105207
Ensembl peptide - ENSMUSP00000117745
NCBI entrez gene - 223701     See in Manteia.
MGI - MGI:2384495
RefSeq - XM_006520812
RefSeq - NM_001082536
RefSeq - NM_153049
RefSeq Peptide - NP_001076005
RefSeq Peptide - NP_694629
swissprot - D3YUI2
swissprot - D3YUG5
swissprot - Q8K4J6
Ensembl - ENSMUSG00000042292
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mkl1aENSDARG00000075867Danio rerio
 mkl1bENSDARG00000076229Danio rerio
 MKL1ENSGALG00000012024Gallus gallus
 MKL1ENSG00000196588Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Mkl2 / MKL1/myocardin like 2 / Q9ULH7*ENSMUSG0000000956948
Myocd / Q8VIM5 / Myocardin / Q8IZQ8*ENSMUSG0000002054236


Protein motifs (from Interpro)
Interpro ID Name
 IPR003034  SAP domain
 IPR004018  RPEL repeat
 IPR029992  MKL/myocardin-like protein 1
 IPR035500  Nuclear hormone receptor-like domain superfamily
 IPR036361  SAP domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001764 neuron migration IGI
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0010735 positive regulation of transcription via serum response element binding IEA
 biological_processGO:0030036 actin cytoskeleton organization IGI
 biological_processGO:0030900 forebrain development IGI
 biological_processGO:0031175 neuron projection development IGI
 biological_processGO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II ISO
 biological_processGO:0051145 smooth muscle cell differentiation IBA
 biological_processGO:2001234 negative regulation of apoptotic signaling pathway IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 molecular_functionGO:0000976 transcription regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IDA
 molecular_functionGO:0003713 transcription coactivator activity IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0003785 actin monomer binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0043522 leucine zipper domain binding ISO


Pathways (from Reactome)
Pathway description
SUMOylation of transcription cofactors
RHO GTPases Activate Formins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000278 abnormal myocardial fiber morphology "malformed or poorly developed cardiac muscle fibers, the multinucleated muscle cells of the heart" [J:18048]
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Allelic Composition: Map3k7tm1Zjc/Map3k7tm1Zjc,Tg(Lck-cre)548Jxm/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0000627 abnormal mammary gland morphology "malformation of the milk-secreting gland that lies within the breast; usually rudimentary in males" [J:70183]
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Allelic Composition: Map3k7tm1Zjc/Map3k7tm1Zjc,Tg(Lck-cre)548Jxm/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0000807 abnormal hippocampus morphology "absent or malformed deep lying structure of the cerebrum involved with memory storage and spatial navigation" [The Atlas of Mouse Development:ISBN 0-12-402035-6, MGI:Cls, J:38857]
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Allelic Composition: Ndufs4tm1.1Rpa/Ndufs4tm1.1Rpa
Genetic Background: involves: 129S4/SvJaeSor

 MP:0000812 abnormal dentate gyrus morphology "absence or malformation of one of two interlocking gyri of the hippocampus that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:38857]
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Allelic Composition: Ndufs4tm1.1Rpa/Ndufs4tm1.1Rpa
Genetic Background: involves: 129S4/SvJaeSor

 MP:0000819 abnormal olfactory bulb morphology "malformation or absence of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, Principles of Neural Science:ISBN 0-8385-8034-3, J:16461]
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Allelic Composition: Ndufs4tm1.1Rpa/Ndufs4tm1.1Rpa
Genetic Background: involves: 129S4/SvJaeSor

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Ndufs4tm1.1Rpa/Ndufs4tm1.1Rpa
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Mamstrtm1.2Eno/Mamstrtm1.2Eno,Mkl1tm1Eno/Mkl1tm1Eno
Genetic Background: involves: 129 * C57BL/6

 MP:0001787 pericardial edema "accumulation of watery fluid in the pericardial sac of the heart" [J:52597]
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Allelic Composition: Map3k7tm1Zjc/Map3k7tm1Zjc,Tg(Lck-cre)548Jxm/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0001881 abnormal mammary gland physiology "aberrant function of of the milk-secreting gland that lies within the breast" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Map3k7tm1Zjc/Map3k7tm1Zjc,Tg(Lck-cre)548Jxm/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0001882 abnormal lactation "atypical production of milk from the mammary gland" [J:51296]
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Allelic Composition: Map3k7tm1Zjc/Map3k7tm1Zjc,Tg(Lck-cre)548Jxm/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

Allelic Composition: Mkl1tm1Eno/Mkl1tm1Eno
Genetic Background: involves: 129S/SvEv * C57BL/6

 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: Dmdmdx/Dmdmdx,Mamstrtm1.2Eno/Mamstrtm1.2Eno
Genetic Background: involves: 129 * C57BL/6 * C57BL/10ScSn

 MP:0002196 acallosal "absence of the commissural plate interconnecting the cortical hemispheres of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ndufs4tm1.1Rpa/Ndufs4tm1.1Rpa
Genetic Background: involves: 129S4/SvJaeSor

 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]
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Allelic Composition: Mamstrtm1.2Eno/Mamstrtm1.2Eno,Mkl1tm1Eno/Mkl1tm1Eno
Genetic Background: involves: 129 * C57BL/6

 MP:0003140 dilated atria "an expansion in the volume of one or both of the upper chambers of the heart" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Map3k7tm1Zjc/Map3k7tm1Zjc,Tg(Lck-cre)548Jxm/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0003203 increased neuron apoptosis "increase in the number of neurons undergoing programmed cell death" [RGD:Rat Genome Database submission]
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Allelic Composition: Ndufs4tm1.1Rpa/Ndufs4tm1.1Rpa
Genetic Background: involves: 129S4/SvJaeSor

 MP:0004275 abnormal postnatal subventricular zone morphology "any structural anomaly of the mitotically active layer of cells surrounding the brain ventricles in the adult that consists of migrating neuroblasts, astrocytes and transitory amplifying progenitor cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:12637172]
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Allelic Composition: Ndufs4tm1.1Rpa/Ndufs4tm1.1Rpa
Genetic Background: involves: 129S4/SvJaeSor

 MP:0004279 abnormal rostral migratory stream morphology "any structural anomaly of the transient structure formed by neurons migrating from the subventricular zone into the olfactory bulbs" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ndufs4tm1.1Rpa/Ndufs4tm1.1Rpa
Genetic Background: involves: 129S4/SvJaeSor

 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: Mamstrtm1.2Eno/Mamstrtm1.2Eno,Mkl1tm1Eno/Mkl1tm1Eno
Genetic Background: involves: 129 * C57BL/6

 MP:0006009 abnormal neuronal migration "defective or impaired movement of immature neurons from germinal zones to specific positions where they will reside as they mature" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Ndufs4tm1.1Rpa/Ndufs4tm1.1Rpa
Genetic Background: involves: 129S4/SvJaeSor

 MP:0006035 abnormal mitochondrial morphology "anomalous structure of the mitochondria" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Map3k7tm1Zjc/Map3k7tm1Zjc,Tg(Lck-cre)548Jxm/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0006085 myocardial necrosis "pathological cell death of the cardiac muscle cells, usually due to irreversible damage" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92722]
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Allelic Composition: Map3k7tm1Zjc/Map3k7tm1Zjc,Tg(Lck-cre)548Jxm/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0006126 abnormal outflow tract development "anomaly in the development of the common arterial trunk that forms the aorta and pulmonary artery" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Map3k7tm1Zjc/Map3k7tm1Zjc,Tg(Lck-cre)548Jxm/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0006270 abnormal mammary gland growth during lactation "anomaly in the final stage of mammary growth that occurs during the start of lactation" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Mkl1tm1Eno/Mkl1tm1Eno
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0006271 abnormal involution of the mammary gland "anomaly in the process during which mammary glands suspend milk protein production, the mammary alveolar structures collapse and secretory epithelial cells are lost" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Map3k7tm1Zjc/Map3k7tm1Zjc,Tg(Lck-cre)548Jxm/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

Allelic Composition: Mkl1tm1Eno/Mkl1tm1Eno
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0008022 dilated heart ventricles "the lumenal space of the lower chambers of the heart is increased in volume or area, usually with an increase in contained fluid" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Map3k7tm1Zjc/Map3k7tm1Zjc,Tg(Lck-cre)548Jxm/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0008227 absent anterior commissure "absence of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Ndufs4tm1.1Rpa/Ndufs4tm1.1Rpa
Genetic Background: involves: 129S4/SvJaeSor

 MP:0008284 abnormal hippocampus pyramidal cell layer 
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Allelic Composition: Ndufs4tm1.1Rpa/Ndufs4tm1.1Rpa
Genetic Background: involves: 129S4/SvJaeSor

 MP:0009410 abnormal skeletal muscle satellite cell proliferation "anomaly in the ability of unfused cells in skeltal muscle to undergo expansion by cell division, usually triggered by injury or disease" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mamstrtm1.2Eno/Mamstrtm1.2Eno,Mkl1tm1Eno/Mkl1tm1Eno
Genetic Background: involves: 129 * C57BL/6

 MP:0009504 abnormal mammary gland epithelium morphology "any structural anomaly of the epithelial layer of the luminal surfaces of the mammary gland" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Map3k7tm1Zjc/Map3k7tm1Zjc,Tg(Lck-cre)548Jxm/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0009506 abnormal mammary gland alveolus morphology "any structural anomaly of the sac-like structure of the mammary gland that secretes milk after pregnancy" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Map3k7tm1Zjc/Map3k7tm1Zjc,Tg(Lck-cre)548Jxm/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0009937 abnormal neuron differentiation "abnormal growth or development of the cells of the nervous system that receive, conduct, and transmit impulses" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ndufs4tm1.1Rpa/Ndufs4tm1.1Rpa
Genetic Background: involves: 129S4/SvJaeSor

 MP:0009939 abnormal hippocampus neuron morphology 
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Allelic Composition: Ndufs4tm1.1Rpa/Ndufs4tm1.1Rpa
Genetic Background: involves: 129S4/SvJaeSor

 MP:0010239 decreased skeletal muscle weight "less than average skeletal muscle weight" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mamstrtm1.2Eno/Mamstrtm1.2Eno,Mkl1tm1Eno/Mkl1tm1Eno
Genetic Background: involves: 129 * C57BL/6

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Ndufs4tm1.1Rpa/Ndufs4tm1.1Rpa
Genetic Background: involves: 129S4/SvJaeSor

 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: Mamstrtm1.2Eno/Mamstrtm1.2Eno,Mkl1tm1Eno/Mkl1tm1Eno
Genetic Background: involves: 129 * C57BL/6

 MP:0011101 partial prenatal 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 between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Map3k7tm1Zjc/Map3k7tm1Zjc,Tg(Lck-cre)548Jxm/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

 MP:0011707 impaired fibroblast cell migration "failure of cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium" [MGI:csmith]
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Allelic Composition: Ndufs4tm1.1Rpa/Ndufs4tm1.1Rpa
Genetic Background: involves: 129S4/SvJaeSor

 MP:0012468 decreased striatum area "reduced size of a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking" [ISBN:0838580343, MGI:csmith]
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Allelic Composition: Ndufs4tm1.1Rpa/Ndufs4tm1.1Rpa
Genetic Background: involves: 129S4/SvJaeSor

 MP:0013239 impaired skeletal muscle regeneration "reduced ability to repair skeletal muscle after injury or disease" [MGI:csmith]
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Allelic Composition: Mamstrtm1.2Eno/Mamstrtm1.2Eno,Mkl1tm1Eno/Mkl1tm1Eno
Genetic Background: involves: 129 * C57BL/6

 MP:0013718 galactostasis "abnormal accumulation of milk within the mammary gland alveoli and ducts due to failure of ejection (letdown) from the gland; may be associated with nipple anatomic abnormalities" [MGI:Anna]
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Allelic Composition: Map3k7tm1Zjc/Map3k7tm1Zjc,Tg(Lck-cre)548Jxm/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

Allelic Composition: Mkl1tm1Eno/Mkl1tm1Eno
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0013719 pale mammary gland "loss of the normal reddish-pink color of mammary gland tissue" [MGI:Anna]
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Allelic Composition: Map3k7tm1Zjc/Map3k7tm1Zjc,Tg(Lck-cre)548Jxm/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

Allelic Composition: Mkl1tm1Eno/Mkl1tm1Eno
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0013778 abnormal mammary gland myoepithelium morphology "any structural anomaly of the outer cell layer of the mammary gland epithelium bilayer which is located basal to the luminal (secretory) cells and adjacent to the basement membrane; basal cells (aka myoepithelial cells) are specialized epithelial cells that express smooth muscle-specific contractile and cytoskeletal properties; in lactating females, milk is produced by luminal cells, secreted into the alveolar lumen and collected in the ducts for expulsion out of the body through the nipple, due to the contractile activity of the basal myoepithelial cells" [ISBN:8793237073, MGI:Anna]
Show

Allelic Composition: Mkl1tm1Eno/Mkl1tm1Eno
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0013779 abnormal mammary gland myoepithelium physiology "any functional anomaly of the outer cell layer of the mammary gland epithelium bilayer which is located basal to the luminal (secretory) cells and adjacent to the basement membrane; basal cells (aka myoepithelial cells or MECs) are specialized epithelial cells that express smooth muscle-specific contractile and cytoskeletal properties; during lactation, MECs contract in response to oxytocin to generate the contractile force required for milk ejection; MECs are involved in all developmental stages of mammary gland morphogenesis, modulating proliferation and differentiation of luminal cells; they take part in the formation of extracellular matrix, synthesizing its components and secreting proteinases and their inhibitors; in addition, MECs are regarded as natural cancer suppressors: they secrete suppressor proteins limiting cancer growth, invasiveness, and neoangiogenesis; MECs are markedly resistant to malignant transformation and they are able to suppress the transformation of neighboring luminal cells" [ISBN:8793237073, PMID:20235044]
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Allelic Composition: Map3k7tm1Zjc/Map3k7tm1Zjc,Tg(Lck-cre)548Jxm/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

Allelic Composition: Mkl1tm1Eno/Mkl1tm1Eno
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0014126 increased mammary gland apoptosis "increase in the number of any cells of a mammary gland undergoing programmed cell death" [MGI:Anna]
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Allelic Composition: Map3k7tm1Zjc/Map3k7tm1Zjc,Tg(Lck-cre)548Jxm/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

Allelic Composition: Mkl1tm1Eno/Mkl1tm1Eno
Genetic Background: involves: 129S/SvEv * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000021262 Evl / P70429 / Ena/VASP-like protein / Q9UI08* / Enah/Vasp-like*  / reaction
 ENSMUSG00000035236 Scai / Q8C8N2 / Protein SCAI / Q8N9R8* / suppressor of cancer cell invasion*  / complex / reaction
 ENSMUSG00000062825 Actg1 / P63260 / Actin, cytoplasmic 2 Actin, cytoplasmic 2, N-terminally processed / P63261* / actin gamma 1*  / reaction / complex
 ENSMUSG00000029580 Actb / P60710 / Actin, cytoplasmic 1 Actin, cytoplasmic 1, N-terminally processed / POTEJ* / P60709* / P0CG39* / actin beta* / POTE ankyrin domain family member J*  / complex / reaction
 ENSMUSG00000042292 Mkl1 / Q8K4J6 / MKL/myocardin-like protein 1 / Q969V6* / megakaryoblastic leukemia (translocation) 1*  / reaction
 ENSMUSG00000015605 Srf / Q9JM73 / Serum response factor / P11831*  / reaction / complex
 ENSMUSG00000024456 1 / Diaph1 / O08808 / O60610* / diaphanous related formin 1*  / reaction
 ENSMUSG00000026021 Sumo1 / P63166 / Small ubiquitin-related modifier 1 / P63165* / small ubiquitin-like modifier 1*  / reaction / complex
 ENSMUSG00000015120 Ube2i / P63280 / ubiquitin-conjugating enzyme E2I / P63279*  / reaction
 ENSMUSG00000007815 Rhoa / Q9QUI0 / ras homolog family member A / P61586*  / reaction






 

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