ENSMUSG00000022141


Mus musculus

Features
Gene ID: ENSMUSG00000022141
  
Biological name :Nipbl
  
Synonyms : Nipbl / Nipped-B-like protein / Q6KCD5
  
Possible biological names infered from orthology : NIPBL, cohesin loading factor / Q6KC79
  
Species: Mus musculus
  
Chr. number: 15
Strand: -1
Band: A1
Gene start: 8290617
Gene end: 8444463
  
Corresponding Affymetrix probe sets: 10427538 (MoGene1.0st)   1430309_at (Mouse Genome 430 2.0 Array)   1437158_at (Mouse Genome 430 2.0 Array)   1442103_at (Mouse Genome 430 2.0 Array)   1443992_at (Mouse Genome 430 2.0 Array)   1453576_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000059385
NCBI entrez gene - 71175     See in Manteia.
MGI - MGI:1913976
RefSeq - XM_017316746
RefSeq - NM_027707
RefSeq - NM_201232
RefSeq - XM_006519996
RefSeq - XM_011245334
RefSeq - XM_017316745
RefSeq - XM_006519994
RefSeq - XM_006519995
RefSeq Peptide - NP_957684
RefSeq Peptide - NP_081983
swissprot - Q6KCD5
Ensembl - ENSMUSG00000022141
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 F1QBY1ENSDARG00000061052Danio rerio
 nipblaENSDARG00000098272Danio rerio
 ENSGALG00000003605Gallus gallus
 NIPBLLENSGALG00000039023Gallus gallus
 NIPBLENSG00000164190Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR011989  Armadillo-like helical
 IPR016024  Armadillo-type fold
 IPR024986  Sister chromatid cohesion C-terminal domain
 IPR026003  HEAT repeat associated with sister chromatid cohesion protein
 IPR033031  SCC2/Nipped-B family


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0003007 heart morphogenesis IEA
 biological_processGO:0003151 outflow tract morphogenesis IEA
 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 IMP
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007064 mitotic sister chromatid cohesion IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007420 brain development IEA
 biological_processGO:0007507 heart development IMP
 biological_processGO:0007605 sensory perception of sound IEA
 biological_processGO:0010468 regulation of gene expression IEA
 biological_processGO:0019827 stem cell population maintenance IMP
 biological_processGO:0031065 positive regulation of histone deacetylation IEA
 biological_processGO:0034088 maintenance of mitotic sister chromatid cohesion IEA
 biological_processGO:0034613 cellular protein localization IEA
 biological_processGO:0035115 embryonic forelimb morphogenesis IEA
 biological_processGO:0035136 forelimb morphogenesis IEA
 biological_processGO:0035261 external genitalia morphogenesis IEA
 biological_processGO:0040018 positive regulation of multicellular organism growth IMP
 biological_processGO:0042471 ear morphogenesis IEA
 biological_processGO:0042634 regulation of hair cycle IEA
 biological_processGO:0045444 fat cell differentiation IMP
 biological_processGO:0045778 positive regulation of ossification IMP
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IMP
 biological_processGO:0045995 regulation of embryonic development IEA
 biological_processGO:0048557 embryonic digestive tract morphogenesis IEA
 biological_processGO:0048589 developmental growth IEA
 biological_processGO:0048592 eye morphogenesis IEA
 biological_processGO:0048638 regulation of developmental growth IEA
 biological_processGO:0048701 embryonic cranial skeleton morphogenesis IMP
 biological_processGO:0048703 embryonic viscerocranium morphogenesis IMP
 biological_processGO:0050890 cognition IEA
 biological_processGO:0060325 face morphogenesis IEA
 biological_processGO:0061010 gall bladder development IEA
 biological_processGO:0061038 uterus morphogenesis IEA
 biological_processGO:0071481 cellular response to X-ray IEA
 biological_processGO:0071921 cohesin loading IMP
 biological_processGO:2001224 positive regulation of neuron migration IMP
 cellular_componentGO:0000785 chromatin IDA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0032039 integrator complex IDA
 cellular_componentGO:0032116 SMC loading complex IEA
 cellular_componentGO:0090694 Scc2-Scc4 cohesin loading complex IEA
 molecular_functionGO:0003682 chromatin binding IDA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008022 protein C-terminus binding IEA
 molecular_functionGO:0036033 mediator complex binding IDA
 molecular_functionGO:0042826 histone deacetylase binding IEA
 molecular_functionGO:0047485 protein N-terminus binding IEA
 molecular_functionGO:0070087 chromo shadow domain binding IEA


Pathways (from Reactome)
Pathway description
Cohesin Loading onto Chromatin


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000024 lowered ear position "outer ears which are situated below the normal location " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0000060 delayed bone ossification "late onset of the formation of bone" [J:40203]
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Allelic Composition: Nipbltm1.2Hpt/Nipbl+
Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6 * SJL

 MP:0000074 abnormal neurocranium morphology "malformed bones of the skull enclosing the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55583]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Nipbltm1.2Hpt/Nipbl+
Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6 * SJL

 MP:0000088 short mandible "reduced length of the lower bony framework of the mouth where the inferior teeth are held" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,Nipbltm1.1Hpt/Nipbl+,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0000104 abnormal sphenoid bone morphology "malformed irregularly shaped bone of the base of the skull" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000150 abnormal rib morphology "malformed bones forming the bony wall of the chest" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:50311]
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Allelic Composition: Nipbltm1.2Hpt/Nipbl+
Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6 * SJL

 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000432 abnormal head morphology "anomalous structure or development of the portion of the body containing the brain and organs of sight, hearing, taste, and smell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000433 microcephaly "an abnormally small head" [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: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000435 shortened head "reduced anterior-posterior length of the head" [J:42035]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000438 abnormal skull morphology "anomalous structure or development of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0000454 abnormal jaw morphology "malformation of the bony framework of the mouth where the teeth are held" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Nipbltm1.2Hpt/Nipbl+
Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6 * SJL

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0000457 maxilla hypoplasia "arrested growth or atrophy of the upper bony framework of the mouth where the superior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator, J:54637]
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Allelic Composition: Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0000460 mandible hypoplasia "arrested growth or atrophy of the lower bony framework of the mouth where the inferior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator, J:54637]
Show

Allelic Composition: Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0000774 reduced brain size "smaller appearance of the brain" [J:35802]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000781 reduced size of corpus callosum "smaller commissural plate interconnecting the cortical hemispheres of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000849 abnormal cerebellum morphology "any malformation or absence of the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement and learning of motor skills" [J:50311, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Nipbltm1.2Hpt/Nipbl+
Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6 * SJL

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Htttm2Detl/Htt+
Genetic Background: B6J.129P2-Htttm2Detl

 MP:0001302 eyelids open at birth "widely open eyes instead of closed at perinatal stage" [J:51966]
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Allelic Composition: Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0001340 abnormal eyelid morphology "malformation of the skin folds covering the front of the eyeball" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001394 circling "repeated, compulsive movement in a circle; often associated with inner ear defects" [MGI:CLS, J:61295]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001731 abnormal postnatal growth "anomaly in reaching a developmental stage or stages after birth" [il:Ira Lu, Mouse Genome Informatics Curator]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001780 decreased brown fat amount "reduced quantity of this thermogenic form of adipose tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001783 decreased white fat amount "reduced quantity of fat-storing cells/tissue" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001845 abnormal inflammatory response "aberrant reaction of the microcirculation characterized by movement of fluid and leukocytes from the blood into extravascular tissues" [Pathology:ISBN 0-397-51047-0]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001851 eye inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the eye" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002082 postnatal lethality "premature death anytime after postnatal day 1 to weaning age (3 weeks)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002092 abnormal eye morphology "abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002116 abnormal craniofacial bone morphology "abnormal development of cranial or facial bones resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002544 brachydactyly "abnormally short digits" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003419 delayed endochondral bone ossification "late onset of bone formation in bones that form from cartilage" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:94631]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003420 delayed intramembranous bone ossification "late onset of bone formation in bones that form without a cartilagenous intermediate including the cranium and clavicle" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:94631]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003773 everted lip "an outward turning of the inner surface of the lip" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0003935 abnormal craniofacial development "anomaly in the process of forming the face and/or cranium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0004055 atrial hypoplasia "reduction in cell number of one or both of the two upper chambers of the heart" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:36567]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004056 abnormal myocardial compact layer morphology "malformation of the outer, dense layer of the myocardium " [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004200 reduced fetal size "smaller proportions of a fetus compared to littermates (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004351 short humerus "reduced length of one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Nipbltm1.2Hpt/Nipbl+
Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6 * SJL

 MP:0004355 short radius "reduced length of the short bone of the lateral forearm" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Nipbltm1.2Hpt/Nipbl+
Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6 * SJL

 MP:0004592 small mandible "reduced size of the lower bony framework of the mouth where the inferior teeth are held" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0004686 decreased length of long bones "reduced end-to-end length of the several elongated bones of the extremities" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004738 abnormal brainstem auditory evoked potential "anomaly in the electrical activity generated in response to short tone bursts; may be used to evaluate sensorineural hearing function" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005076 abnormal cell differentiation "anomaly in the process whereby relatively unspecialized cells, e. g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism s life history" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005508 abnormal skeleton morphology "malformation of the bony framework of the body in vertebrates" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Nipbltm1.2Hpt/Nipbl+
Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6 * SJL

 MP:0006113 abnormal heart septum morphology "abnormality in the wall between the atria or ventricles of the heart, usually incomplete closure" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0006411 upturned snout "muzzle has a curve or tilt such that the tip points upwards" [MGI:brs "Beverly Richards-Smith, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0008277 abnormal sternum ossification "anomaly in the process of the formation of the sternum bone by the replacement of cartilage tissue with mineralized bone" [GO:0001958, MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Nipbltm1.2Hpt/Nipbl+
Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6 * SJL

 MP:0009431 decreased fetal weight "reduced weight of a fetus compared to controls (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Nipbltm1.2Hpt/Nipbl+
Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6 * SJL

 MP:0009703 decreased birth body size "reduction in average body size at birth compared to controls" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Nipbltm1.2Hpt/Nipbl+
Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6 * SJL

 MP:0009777 abnormal behavioral response to anesthetic "anomaly in the behavioral changes that follow exposure to an anesthetizing agent" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0010402 ventricular septal defect "abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions" [MESH:C14.240.400.560.540]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0010403 atrial septal defect "abnormal communications between the two upper chambers of the heart, including such defects in any or all of the ostium primum, ostium secundum, sinus venosus, and coronary sinus regions" [MESH:C14.240.400.560.375]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0010499 abnormal ventricle myocardium morphology "any structural anomaly of the ventricular part of middle layer of the heart, comprised of involuntary muscle" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Nipbltm1.2Hpt/Nipbl+
Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6 * SJL

 MP:0011262 abnormal branchial arch mesenchyme morphology "any structural anomaly in the primordial embryonic connective tissue associated with the branchial arches, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to facial and cranial nerve-associated structures" [ISBN:0-683-40008-8, MGI:csmith]
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Allelic Composition: Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0011966 abnormal auditory brainstem response waveform shape "any anomaly in the characteristic pattern of electrical activity recording of a series of vertex positive waves generated by neurons in the ascending auditory system, that can be recorded from scalp electrograms by using computer-averaged responses to short tone bursts" [MGI:csmith]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0012085 midface hypoplasia "underdevelopment of the midfacial region comprising the nasal, maxillary, and zygomatic bones, leading to a concave-looking face" [MGI:anna]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0012523 abnormal upper lip morphology "any structural anomaly of the muscular fold forming the superior border of the mouth" [MGI:anna]
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Allelic Composition: Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0012760 decreased cranial neural crest cell proliferation "reduced ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division" [MGI:anna]
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Allelic Composition: Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0030065 face hypoplasia "underdevelopment or reduced size of the face, usually due to a reduced number of cells" [MGI:anna]
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Allelic Composition: Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

Allelic Composition: Mau2tm1.1Hpt/Mau2tm1.1Hpt,Nipbltm1.1Hpt/Nipbltm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

 MP:0030303 small ethmoid bone "reduced size of the single midline facial bone that separates the nasal cavity from the brain, located at the roof of the nose between the two orbits" [MGI:anna]
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Allelic Composition: Ahi1tm1Jgg/Ahi1tm1Jgg,Tg(TCF/Lef1-lacZ)34Efu/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000029202 Pds5a / PDS5 cohesin associated factor A / Q29RF7*  / complex / reaction
 ENSMUSG00000041408 Wapl / Q65Z40 / WAPL cohesin release factor / Q7Z5K2*  / reaction / complex
 ENSMUSG00000034021 Pds5b / Q4VA53 / Mus musculus PDS5 cohesin associated factor B (Pds5b), transcript variant 2, mRNA. / Q9NTI5* / PDS5 cohesin associated factor B*  / complex / reaction
 ENSMUSG00000031858 Mau2 / Q9D2X5 / MAU2 chromatid cohesion factor homolog / Q9Y6X3* / MAU2 sister chromatid cohesion factor*  / complex / reaction
 ENSMUSG00000022141 Nipbl / Q6KCD5 / Nipped-B-like protein / Q6KC79* / NIPBL, cohesin loading factor*  / reaction






 

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