ENSMUSG00000022770


Mus musculus

Features
Gene ID: ENSMUSG00000022770
  
Biological name :Dlg1
  
Synonyms : Disks large homolog 1 / Dlg1 / Q811D0
  
Possible biological names infered from orthology : discs large MAGUK scaffold protein 1 / Q12959
  
Species: Mus musculus
  
Chr. number: 16
Strand: 1
Band: B2
Gene start: 31663443
Gene end: 31873356
  
Corresponding Affymetrix probe sets: 10434942 (MoGene1.0st)   10338179 (MoGene1.0st)   10338394 (MoGene1.0st)   10338398 (MoGene1.0st)   10338493 (MoGene1.0st)   10338556 (MoGene1.0st)   10338906 (MoGene1.0st)   10338910 (MoGene1.0st)   10338918 (MoGene1.0st)   10339191 (MoGene1.0st)   10339316 (MoGene1.0st)   10339453 (MoGene1.0st)   10339764 (MoGene1.0st)   10339993 (MoGene1.0st)   10339994 (MoGene1.0st)   10340217 (MoGene1.0st)   10340282 (MoGene1.0st)   10341405 (MoGene1.0st)   10341421 (MoGene1.0st)   10341641 (MoGene1.0st)   10341651 (MoGene1.0st)   10341857 (MoGene1.0st)   10342352 (MoGene1.0st)   10342372 (MoGene1.0st)   10343062 (MoGene1.0st)   10343222 (MoGene1.0st)   10343823 (MoGene1.0st)   10343928 (MoGene1.0st)   10344561 (MoGene1.0st)   10338171 (MoGene1.0st)   10338677 (MoGene1.0st)   10338767 (MoGene1.0st)   10339114 (MoGene1.0st)   10339226 (MoGene1.0st)   10339427 (MoGene1.0st)   10339952 (MoGene1.0st)   10340390 (MoGene1.0st)   10340631 (MoGene1.0st)   10341182 (MoGene1.0st)   10341363 (MoGene1.0st)   10341456 (MoGene1.0st)   10341703 (MoGene1.0st)   10342036 (MoGene1.0st)   10342255 (MoGene1.0st)   10342956 (MoGene1.0st)   10343472 (MoGene1.0st)   10344064 (MoGene1.0st)   10344413 (MoGene1.0st)   10344553 (MoGene1.0st)   1415691_at (Mouse Genome 430 2.0 Array)   1445798_at (Mouse Genome 430 2.0 Array)   1450768_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000138782
Ensembl peptide - ENSMUSP00000115954
Ensembl peptide - ENSMUSP00000138804
Ensembl peptide - ENSMUSP00000023454
Ensembl peptide - ENSMUSP00000064280
Ensembl peptide - ENSMUSP00000097581
Ensembl peptide - ENSMUSP00000110850
Ensembl peptide - ENSMUSP00000110855
Ensembl peptide - ENSMUSP00000110859
NCBI entrez gene - 13383     See in Manteia.
MGI - MGI:107231
RefSeq - XM_017316872
RefSeq - XM_006521769
RefSeq - XM_006521770
RefSeq - XM_006521771
RefSeq - XM_006521772
RefSeq - XM_006521773
RefSeq - XM_017316865
RefSeq - XM_017316866
RefSeq - XM_017316867
RefSeq - XM_017316868
RefSeq - XM_017316869
RefSeq - XM_017316870
RefSeq - XM_017316871
RefSeq - NM_001252433
RefSeq - NM_001252434
RefSeq - NM_001252435
RefSeq - NM_001252436
RefSeq - NM_007862
RefSeq - XM_006521761
RefSeq - XM_006521762
RefSeq - XM_006521763
RefSeq - XM_006521764
RefSeq - XM_006521765
RefSeq - XM_006521766
RefSeq - XM_006521767
RefSeq - XM_006521768
RefSeq Peptide - NP_031888
RefSeq Peptide - NP_001239362
RefSeq Peptide - NP_001239363
RefSeq Peptide - NP_001239364
RefSeq Peptide - NP_001239365
swissprot - F6UDT8
swissprot - D3Z3B8
swissprot - S4R2V5
swissprot - H7BWY4
swissprot - E9Q9H0
swissprot - Q811D0
swissprot - S4R2T8
Ensembl - ENSMUSG00000022770
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 dlg1ENSDARG00000009677Danio rerio
 dlg1lENSDARG00000102216Danio rerio
 DLG1ENSGALG00000006908Gallus gallus
 DLG1ENSG00000075711Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Dlg2 / Q91XM9 / Disks large homolog 2 / Q15700* / discs large MAGUK scaffold protein 2*ENSMUSG0000005257264
Dlg3 / P70175 / Disks large homolog 3 / Q92796* / discs large MAGUK scaffold protein 3*ENSMUSG0000000088161
Dlg4 / Q62108 / Disks large homolog 4 / P78352* / discs large MAGUK scaffold protein 4*ENSMUSG0000002088658
Dlg5 / E9Q9R9 / Disks large homolog 5 / Q8TDM6* / discs large MAGUK scaffold protein 5*ENSMUSG0000002178222
Tjp3 / tight junction protein 3 / O95049*ENSMUSG0000003491718
Tjp1 / P39447 / tight junction protein 1 / Q07157*ENSMUSG0000003051618
Tjp2 / Q9Z0U1 / Tight junction protein ZO-2 / Q9UDY2* / AL358113.1* / tight junction protein 2*ENSMUSG0000002481217
Mpp4 / Q6P7F1 / MAGUK p55 subfamily member 4 / Q96JB8* / membrane palmitoylated protein 4*ENSMUSG0000007955017
Mpp5 / Q9JLB2 / membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) / Q8N3R9* / membrane palmitoylated protein 5*ENSMUSG0000002111217
Mpp3 / membrane palmitoylated protein 3 / Q13368*ENSMUSG0000005237316
Mpp2 / Q9WV34 / Mus musculus membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) (Mpp2), transcript variant 1, mRNA. / Q14168* / membrane palmitoylated protein 2*ENSMUSG0000001731416
Mpp7 / MAGUK p55 subfamily member 7 isoform 2 / Q5T2T1* / membrane palmitoylated protein 7*ENSMUSG0000005744016
Cask / O70589 / Peripheral plasma membrane protein CASK / O14936* / calcium/calmodulin dependent serine protein kinase*ENSMUSG0000003101216
Mpp6 / Q9JLB0 / membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) / Q9NZW5* / membrane palmitoylated protein 6*ENSMUSG0000003838815
Mpp1 / P70290 / membrane protein, palmitoylated / Q00013* / membrane palmitoylated protein 1*ENSMUSG0000003140212
Guk1 / guanylate kinase 1 / Q16774*ENSMUSG000000204448


Protein motifs (from Interpro)
Interpro ID Name
 IPR001452  SH3 domain
 IPR001478  PDZ domain
 IPR004172  L27 domain
 IPR008144  Guanylate kinase-like domain
 IPR008145  Guanylate kinase/L-type calcium channel beta subunit
 IPR015143  L27-1
 IPR016313  Disks large 1-like
 IPR019583  PDZ-associated domain of NMDA receptors
 IPR019590  Disks large homologue 1, N-terminal PEST domain
 IPR020590  Guanylate kinase, conserved site
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR036028  SH3-like domain superfamily
 IPR036034  PDZ superfamily
 IPR036892  L27 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II ISO
 biological_processGO:0001657 ureteric bud development IMP
 biological_processGO:0001658 branching involved in ureteric bud morphogenesis IMP
 biological_processGO:0001771 immunological synapse formation IMP
 biological_processGO:0001935 endothelial cell proliferation ISO
 biological_processGO:0002088 lens development in camera-type eye IMP
 biological_processGO:0002369 T cell cytokine production IMP
 biological_processGO:0007015 actin filament organization ISS
 biological_processGO:0007268 chemical synaptic transmission IBA
 biological_processGO:0008104 protein localization IMP
 biological_processGO:0008284 positive regulation of cell proliferation IMP
 biological_processGO:0008360 regulation of cell shape ISO
 biological_processGO:0030432 peristalsis IMP
 biological_processGO:0030838 positive regulation of actin filament polymerization IMP
 biological_processGO:0030866 cortical actin cytoskeleton organization ISO
 biological_processGO:0030953 astral microtubule organization ISO
 biological_processGO:0031579 membrane raft organization IMP
 biological_processGO:0031641 regulation of myelination IMP
 biological_processGO:0032147 activation of protein kinase activity IMP
 biological_processGO:0034629 cellular protein-containing complex localization ISO
 biological_processGO:0040018 positive regulation of multicellular organism growth TAS
 biological_processGO:0042110 T cell activation IMP
 biological_processGO:0042130 negative regulation of T cell proliferation IMP
 biological_processGO:0042391 regulation of membrane potential ISO
 biological_processGO:0042982 amyloid precursor protein metabolic process IGI
 biological_processGO:0043113 receptor clustering IBA
 biological_processGO:0043268 positive regulation of potassium ion transport ISO
 biological_processGO:0043622 cortical microtubule organization ISO
 biological_processGO:0045197 establishment or maintenance of epithelial cell apical/basal polarity IBA
 biological_processGO:0045930 negative regulation of mitotic cell cycle ISS
 biological_processGO:0046037 GMP metabolic process IEA
 biological_processGO:0046710 GDP metabolic process IEA
 biological_processGO:0048608 reproductive structure development IMP
 biological_processGO:0048639 positive regulation of developmental growth TAS
 biological_processGO:0048704 embryonic skeletal system morphogenesis IMP
 biological_processGO:0048729 tissue morphogenesis IMP
 biological_processGO:0048745 smooth muscle tissue development IMP
 biological_processGO:0050680 negative regulation of epithelial cell proliferation IMP
 biological_processGO:0051660 establishment of centrosome localization ISO
 biological_processGO:0051898 negative regulation of protein kinase B signaling IMP
 biological_processGO:0060022 hard palate development IMP
 biological_processGO:0070373 negative regulation of ERK1 and ERK2 cascade ISO
 biological_processGO:0070830 bicellular tight junction assembly ISO
 biological_processGO:0072659 protein localization to plasma membrane ISO
 biological_processGO:0097120 receptor localization to synapse IBA
 biological_processGO:0098609 cell-cell adhesion ISS
 biological_processGO:0098911 regulation of ventricular cardiac muscle cell action potential IMP
 biological_processGO:1903078 positive regulation of protein localization to plasma membrane ISO
 biological_processGO:1903286 regulation of potassium ion import IMP
 biological_processGO:1903753 negative regulation of p38MAPK cascade ISO
 biological_processGO:1903760 regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization IMP
 biological_processGO:1903764 regulation of potassium ion export across plasma membrane IMP
 cellular_componentGO:0001772 immunological synapse ISO
 cellular_componentGO:0005605 basal lamina IDA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum ISO
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005794 Golgi apparatus ISO
 cellular_componentGO:0005829 cytosol ISO
 cellular_componentGO:0005874 microtubule ISO
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005902 microvillus ISO
 cellular_componentGO:0005911 cell-cell junction ISO
 cellular_componentGO:0005913 cell-cell adherens junction TAS
 cellular_componentGO:0005923 bicellular tight junction ISO
 cellular_componentGO:0008328 ionotropic glutamate receptor complex IBA
 cellular_componentGO:0009898 cytoplasmic side of plasma membrane ISO
 cellular_componentGO:0014069 postsynaptic density IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane ISS
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0016328 lateral plasma membrane IDA
 cellular_componentGO:0030054 cell junction ISO
 cellular_componentGO:0031253 cell projection membrane IDA
 cellular_componentGO:0031594 neuromuscular junction IDA
 cellular_componentGO:0033268 node of Ranvier IDA
 cellular_componentGO:0033270 paranode region of axon ISO
 cellular_componentGO:0035748 myelin sheath abaxonal region IDA
 cellular_componentGO:0042383 sarcolemma IEA
 cellular_componentGO:0043219 lateral loop IDA
 cellular_componentGO:0045121 membrane raft IDA
 cellular_componentGO:0045202 synapse IDA
 cellular_componentGO:0045211 postsynaptic membrane IBA
 cellular_componentGO:0048471 perinuclear region of cytoplasm ISO
 cellular_componentGO:0097025 MPP7-DLG1-LIN7 complex ISO
 molecular_functionGO:0004385 guanylate kinase activity IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008022 protein C-terminus binding ISO
 molecular_functionGO:0015459 potassium channel regulator activity IMP
 molecular_functionGO:0019900 kinase binding ISO
 molecular_functionGO:0019901 protein kinase binding ISS
 molecular_functionGO:0019902 phosphatase binding ISS
 molecular_functionGO:0031434 mitogen-activated protein kinase kinase binding ISO
 molecular_functionGO:0032947 protein-containing complex scaffold activity IMP
 molecular_functionGO:0035255 ionotropic glutamate receptor binding IBA
 molecular_functionGO:0044325 ion channel binding ISO
 molecular_functionGO:0045296 cadherin binding ISO
 molecular_functionGO:0097016 L27 domain binding ISO


Pathways (from Reactome)
Pathway description
Trafficking of AMPA receptors
Activation of Ca-permeable Kainate Receptor
Synaptic adhesion-like molecules


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000111 cleft palate "congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Taf7ltm1.1Jw/Y
Genetic Background: 129X1.Cg-Taf7ltm1.1Jw

 MP:0000428 abnormal craniofacial morphology "anomalous structure or development of the face and/or cranium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Dstncorn1/Dstncorn1,Cxcr2tm1Mwm/Cxcr2tm1Mwm
Genetic Background: involves: 129S2/SvPas * A/WySn * BALB/c * brachy stock

Allelic Composition: Dlg1tm1.2Agri/Dlg1tm1.2Agri
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0000440 domed skull 
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Allelic Composition: Foxn1nu/Foxn1nu
Genetic Background: Not Specified

 MP:0000445 short snout "reduced length of the anterior facial part of the muzzle" [J:53370]
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Allelic Composition: Foxn1nu/Foxn1nu
Genetic Background: Not Specified

 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]
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Allelic Composition: Foxn1nu/Foxn1nu
Genetic Background: Not Specified

 MP:0000477 abnormal intestine morphology "malformation of the digestive tube passing from the stomach to the anus" [J:48968]
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Allelic Composition: Taf7ltm1.1Jw/Y
Genetic Background: 129X1.Cg-Taf7ltm1.1Jw

 MP:0000479 abnormal intestinal cell "anomalous structure or development of the cells comprising the intestine" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Per1tm1Brd/Per1tm1Brd,Per2tm1Brd/Per2tm1.1Kry,Tg(Col1a1-cre)1Kry/0
Genetic Background: involves: 129S7/SvEvBrd * FVB

 MP:0000519 hydronephrosis "dilation of the pelvis and calices of one or both kidneys" [J:56641]
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Allelic Composition: Aifm1Hq/Aifm1Hq,Apaf1Gt(IRESBetageo)XIX18Pgr/Apaf1Gt(IRESBetageo)XIX18Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Dlg1tm1Taki/Dlg1tm1Taki
Genetic Background: involves: C57BL/6 * CBA

 MP:0000527 abnormal kidney development "anomalous differentiation of the paired organs responsible for urine secretion" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Foxn1nu/Foxn1nu
Genetic Background: Not Specified

 MP:0000534 abnormal ureter morphology "anomalous structure of the tube that conducts the urine from the renal pelvis to the bladder" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Aifm1Hq/Aifm1Hq,Apaf1Gt(IRESBetageo)XIX18Pgr/Apaf1Gt(IRESBetageo)XIX18Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Dlg1tm1Taki/Dlg1tm1Taki
Genetic Background: involves: C57BL/6 * CBA

 MP:0000536 hydroureter "distention of the ureter with urine, due to blockage from any cause" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:Cml, J:13044]
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Allelic Composition: Aifm1Hq/Aifm1Hq,Apaf1Gt(IRESBetageo)XIX18Pgr/Apaf1Gt(IRESBetageo)XIX18Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0000585 kinked tail "a sharp bend or zig-zag in the tail" [J:61295]
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Allelic Composition: Foxn1nu/Foxn1nu
Genetic Background: Not Specified

 MP:0000740 impaired smooth muscle contractility "inability or reduced ability of the smooth muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Aifm1Hq/Aifm1Hq,Apaf1Gt(IRESBetageo)XIX18Pgr/Apaf1Gt(IRESBetageo)XIX18Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0001120 abnormal uterus morphology "malformation or absence of the female muscular organ of gestation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Dlg1tm1Taki/Dlg1tm1Taki
Genetic Background: involves: C57BL/6 * CBA

 MP:0001258 decreased body length "decreased crown to tail distance compared to controls" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
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Allelic Composition: Taf7ltm1.1Jw/Y
Genetic Background: 129X1.Cg-Taf7ltm1.1Jw

 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: Foxn1nu/Foxn1nu
Genetic Background: Not Specified

 MP:0001270 distended abdomen "abdomen appears curved outward or swollen; can be due to skeletal axial defects, enlarged visceral organs or megacolon" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Foxn1nu/Foxn1nu
Genetic Background: Not Specified

 MP:0001303 abnormal lens morphology "malformed transparent structure of the eye responsible for focusing light rays" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:40203]
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Allelic Composition: Dlg1tm1.2Agri/Dlg1tm1.2Agri
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Dlg1tm1.1Agri/Dlg1tm1.1Agri,Tg(Cryaa-cre)10Mlr/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Dlg1tm1.1Agri/Dlg1tm1.1Agri,Tg(Cryaa-cre)39Mlr/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0001304 cataracts "complete or partial opacity of the lens" [J:65031]
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Allelic Composition: Dlg1tm1.1Agri/Dlg1tm1.1Agri,Tg(Cryaa-cre)10Mlr/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0001575 cyanosis "a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60159]
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Allelic Composition: Foxn1nu/Foxn1nu
Genetic Background: Not Specified

 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: Aifm1Hq/Aifm1Hq,Apaf1Gt(IRESBetageo)XIX18Pgr/Apaf1Gt(IRESBetageo)XIX18Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0002058 neonatal lethality "death of animal within one day after birth" [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: Dstncorn1/Dstncorn1,Cxcr2tm1Mwm/Cxcr2tm1Mwm
Genetic Background: involves: 129S2/SvPas * A/WySn * BALB/c * brachy stock

 MP:0002160 abnormal reproductive system morphology "structural or developmental anomaly of any of the tissues involved in the reproductive system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Taf7ltm1.1Jw/Y
Genetic Background: 129X1.Cg-Taf7ltm1.1Jw

 MP:0002286 cryptorchism "failure of one or both of the testes to descend into the scrotum around the time of birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Dlg1tm1Taki/Dlg1tm1Taki
Genetic Background: involves: C57BL/6 * CBA

 MP:0002840 abnormal lens fibers morphology "structural anomaly of the elongated cells of the crystalline lens of the eye" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Dlg1tm1.1Agri/Dlg1tm1.1Agri,Tg(Cryaa-cre)10Mlr/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Dlg1tm1.1Agri/Dlg1tm1.1Agri,Tg(Cryaa-cre)39Mlr/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0002990 short ureter "reduced length of the tube that conducts the urine from the renal pelvis to the bladder" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Aifm1Hq/Aifm1Hq,Apaf1Gt(IRESBetageo)XIX18Pgr/Apaf1Gt(IRESBetageo)XIX18Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0003009 abnormal cytokine secretion "impairment or increase of the cellular release of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells " [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, smb:Susan M. Bello , Mouse Genome Informatics Curator]
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Allelic Composition: Dlg1Gt(RRN196)Byg/Dlg1Gt(RRN196)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0003051 curly tail "a loop or corkscrew-like curl in the tail" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Foxn1nu/Foxn1nu
Genetic Background: Not Specified

 MP:0003237 abnormal lens epithelium morphology "malformation in the one or more of the layers of epithelial cells in the lens" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93301]
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Allelic Composition: Foxn1nu/Foxn1nu
Genetic Background: Not Specified

Allelic Composition: Dlg1tm1.1Agri/Dlg1tm1.1Agri,Tg(Cryaa-cre)10Mlr/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0003446 renal hypoplasia "decreased cell number in the kidney leading to reduced size" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Aifm1Hq/Aifm1Hq,Apaf1Gt(IRESBetageo)XIX18Pgr/Apaf1Gt(IRESBetageo)XIX18Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Dlg1tm1Taki/Dlg1tm1Taki
Genetic Background: involves: C57BL/6 * CBA

 MP:0003535 absent vagina "absence of the female reproductive canal located between the uterus and the vulva" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Dlg1tm1Taki/Dlg1tm1Taki
Genetic Background: involves: C57BL/6 * CBA

 MP:0003584 bifid ureter "cleft of the ureter into two parts or branches" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Dlg1tm1Taki/Dlg1tm1Taki
Genetic Background: involves: C57BL/6 * CBA

 MP:0003585 large ureter "increased size or length of the tube that conducts the urine from the renal pelvis to the bladder" [ncbi:Matthew Mailman, NCBI request, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Dlg1tm1Taki/Dlg1tm1Taki
Genetic Background: involves: C57BL/6 * CBA

 MP:0003586 ureter dilation "abnormal distention of the ureter due to accumulation of fluid" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Dlg1tm1Taki/Dlg1tm1Taki
Genetic Background: involves: C57BL/6 * CBA

 MP:0003604 single kidney 
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Allelic Composition: Aifm1Hq/Aifm1Hq,Apaf1Gt(IRESBetageo)XIX18Pgr/Apaf1Gt(IRESBetageo)XIX18Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0003642 absent seminal gland "absence of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Dlg1tm1Taki/Dlg1tm1Taki
Genetic Background: involves: C57BL/6 * CBA

 MP:0003672 abnormal ureter development "anomalous differentiation of the tube that conducts the urine from the renal pelvis to the bladder" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:96485]
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Allelic Composition: Aifm1Hq/Aifm1Hq,Apaf1Gt(IRESBetageo)XIX18Pgr/Apaf1Gt(IRESBetageo)XIX18Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Dlg1tm1Taki/Dlg1tm1Taki
Genetic Background: involves: C57BL/6 * CBA

 MP:0003826 abnormal Mullerian duct morphology "malformation of the transient embryonic tubes that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Dlg1tm1Taki/Dlg1tm1Taki
Genetic Background: involves: C57BL/6 * CBA

 MP:0003827 abnormal Wolffian duct morphology "malformation of the transient embryonic tubes that empty into the cloca and degenerate in the male " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Dlg1tm1Taki/Dlg1tm1Taki
Genetic Background: involves: C57BL/6 * CBA

 MP:0003847 disorganized lens bow "derangement of the area where the lens epithelium pushes into the lens proper and forms new lens fibers" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Dlg1tm1.1Agri/Dlg1tm1.1Agri,Tg(Cryaa-cre)10Mlr/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Dlg1tm1.1Agri/Dlg1tm1.1Agri,Tg(Cryaa-cre)39Mlr/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 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: Foxn1nu/Foxn1nu
Genetic Background: Not Specified

 MP:0004201 fetal growth retardation "slow or limited development during the fetal period (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Foxn1nu/Foxn1nu
Genetic Background: Not Specified

 MP:0004505 decreased renal glomerulus number "reduced number of the capillary loops of the kidney that normally function as a filtration unit" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Foxn1nu/Foxn1nu
Genetic Background: Not Specified

 MP:0004860 dilated kidney collecting duct "stretched or widened aperture of the luminal space of the collecting ducts" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Aifm1Hq/Aifm1Hq,Apaf1Gt(IRESBetageo)XIX18Pgr/Apaf1Gt(IRESBetageo)XIX18Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0004871 premaxilla hypoplasia "underdevelopment or reduced size, usually due to a reduced number of cells, in the anterior and interior portion of the maxilla" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Foxn1nu/Foxn1nu
Genetic Background: Not Specified

 MP:0004936 abnormal ureteric bud branching morphogenesis "partial or complete failure of the ureteric bud to repeatedly divide into lobules during development of the kidney" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Aifm1Hq/Aifm1Hq,Apaf1Gt(IRESBetageo)XIX18Pgr/Apaf1Gt(IRESBetageo)XIX18Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0005463 abnormal CD4+ T cell physiology "anomalous response of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Dlg1Gt(RRN196)Byg/Dlg1Gt(RRN196)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0005465 abnormal T helper 1 physiology "anomalous response of the subset of helper T cells that enhance cell-mediated immune responses; these cells secrete IL-1 and gamma-IFN and are generally involved in inflammatory responses" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
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Allelic Composition: Dlg1Gt(RRN196)Byg/Dlg1Gt(RRN196)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0005466 abnormal T helper 2 physiology "anomalous response of the subset of T helper cells that enhance humoral immunity and inhibit cell-mediated immune responses; these cells produce IL-4 and induce B cells to produce IgE and IgG1, while also supporting eosinophil and mast cell functions " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Dlg1Gt(RRN196)Byg/Dlg1Gt(RRN196)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0005545 abnormal lens development "aberrant formation of the transparent structure of the eye responsible for focusing light rays" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Dlg1tm1.1Agri/Dlg1tm1.1Agri,Tg(Cryaa-cre)10Mlr/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Dlg1tm1.1Agri/Dlg1tm1.1Agri,Tg(Cryaa-cre)39Mlr/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0005631 decreased lung weight "less than the normal state of the physical heaviness of the lung" [RGD:Rat Genome Database submission]
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Allelic Composition: Dlg1tm1Taki/Dlg1tm1Taki
Genetic Background: involves: C57BL/6 * CBA

 MP:0006032 abnormal ureteric bud morphology "anomaly in the formation or development of the ureteric bud that with the metanephric mesenchyme gives rise to the kidneys " [smb:Susan M Bello, Mouse Genome Informatics Curator, J:57313:]
Show

Allelic Composition: Aifm1Hq/Aifm1Hq,Apaf1Gt(IRESBetageo)XIX18Pgr/Apaf1Gt(IRESBetageo)XIX18Pgr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0008143 abnormal dendrite morphology "any structural anomaly of the highly branched tree-like process of a neuron that serves as a receptive field and conducts impulses toward the cell body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Dstncorn1/Dstncorn1,Cxcr2tm1Mwm/Cxcr2tm1Mwm
Genetic Background: involves: 129S2/SvPas * A/WySn * BALB/c * brachy stock

 MP:0008561 decreased tumor necrosis factor secretion "reduction in the production or release of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium" [ISBN:0-8153-1691-7 "Immunobiology, The Immune System in Health and Disease", MESH:D12.644.276.374.500.800]
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Allelic Composition: Dlg1Gt(RRN196)Byg/Dlg1Gt(RRN196)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0008567 decreased interferon-gamma secretion "reduction in the production or release of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation" [MESH:D12.644.276.374.440.893]
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Allelic Composition: Dlg1Gt(RRN196)Byg/Dlg1Gt(RRN196)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0008688 decreased interleukin-2 secretion "reduction in the production or release of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes" [MESH:D12.644.276.374.465.502]
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Allelic Composition: Dlg1Gt(RRN196)Byg/Dlg1Gt(RRN196)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0008699 increased interleukin-4 secretion "increase in the production or release of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells" [MESH:D12.644.276.374.465.504]
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Allelic Composition: Dlg1Gt(RRN196)Byg/Dlg1Gt(RRN196)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0008702 increased interleukin-5 secretion "increase in the production or release of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells" [MESH:D12.644.276.374.465.505]
Show

Allelic Composition: Dlg1Gt(RRN196)Byg/Dlg1Gt(RRN196)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0008794 increased lens epithelium apopotosis "increase in the number of lens epithelial cells undergoing programmed cell death" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Dlg1tm1.1Agri/Dlg1tm1.1Agri,Tg(Cryaa-cre)10Mlr/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0008796 increased lens fiber apoptosis "increase in the number of lens fibers cells undergoing programmed cell death" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Dlg1tm1.1Agri/Dlg1tm1.1Agri,Tg(Cryaa-cre)10Mlr/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Dlg1tm1.1Agri/Dlg1tm1.1Agri,Tg(Cryaa-cre)39Mlr/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0009084 blind uterus "presence of a female muscular organ of gestation that ends in a blind segment or sac and does not communicate with the cevix or vagina" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Dlg1tm1Taki/Dlg1tm1Taki
Genetic Background: involves: C57BL/6 * CBA

 MP:0009247 meteorism "swelling of the abdomen resulting from gas in the intestinal or peritoneal cavity" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Foxn1nu/Foxn1nu
Genetic Background: Not Specified

 MP:0009429 decreased embryo weight "reduced weight of an embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Foxn1nu/Foxn1nu
Genetic Background: Not Specified

 MP:0009546 absent gastric milk in neonates "failure of nursing offspring to ingest milk as indicated by stomach content" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Foxn1nu/Foxn1nu
Genetic Background: Not Specified

 MP:0009885 abnormal palatal shelf elevation "any anomaly in the process in which the palatal shelves move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue" [PMID:16680722]
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Allelic Composition: Foxn1nu/Foxn1nu
Genetic Background: Not Specified

 MP:0009890 cleft secondary palate "congenital fissure of the tissues normally uniting to form the secondary palate" [PMID:16680722]
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Allelic Composition: Foxn1nu/Foxn1nu
Genetic Background: Not Specified

 MP:0010050 hypermyelination "anomaly in the process by which myelin sheaths are formed and maintained around neurons resulting in increased myelin formation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ikbkaptm1c(KOMP)Wtsi/Ikbkaptm1c(KOMP)Wtsi,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: C57BL/6J * C57BL/6N * CBA/J

 MP:0010984 abnormal metanephric mesenchyme morphology "any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, in the developing metanephros; interactions between the ureteric bud and the metanephric mesenchyme leads to the initiation of outgrowth and repetitive branching of the UB that ultimately generates the definitive renal collecting system and induces formation of renal vesicles from the mesenchyme tissue" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:19828308]
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Allelic Composition: Dlg1tm1Taki/Dlg1tm1Taki
Genetic Background: involves: C57BL/6 * CBA

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Foxn1nu/Foxn1nu
Genetic Background: Not Specified

Allelic Composition: Dlg1tm1Jhm/Dlg1tm1Jhm
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Dlg1tm1Taki/Dlg1tm1Taki
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: Dlg1Gt(RRN196)Byg/Dlg1Gt(RRN196)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0011290 decreased nephron number "reduction in the total number of filtering units of the kidney" [MGI:anna]
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Allelic Composition: Foxn1nu/Foxn1nu
Genetic Background: Not Specified

Allelic Composition: Dlg1tm1Jhm/Dlg1tm1Jhm
Genetic Background: involves: 129 * C57BL/6J

 MP:0011298 ureter hypoplasia "underdevelopment or reduced size of the ureter, usually due to a reduced number of cells" [MGI:anna]
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Allelic Composition: Dlg1tm1Taki/Dlg1tm1Taki
Genetic Background: involves: C57BL/6 * CBA

 MP:0011365 small metanephros "reduced size of the primordium of the permanent kidney, which develops later than and caudal to the mesonephros, from the mesonephric duct and nephrogenic cord" [MGI:anna]
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Allelic Composition: Foxn1nu/Foxn1nu
Genetic Background: Not Specified

 MP:0011426 abnormal ureter smooth muscle morphology "any structural anomaly of the smooth muscle tissue surrounding the epithelium of the ureter" [MGI:anna]
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Allelic Composition: Dlg1tm1Jhm/Dlg1tm1Jhm
Genetic Background: involves: 129 * C57BL/6J

 MP:0011480 impaired ureteric peristalsis "any anomaly in the wavelike sequence of involuntary muscular contraction and relaxation that passes along the ureter, thus propelling urine from the kidney pelvis to the urinary bladder" [MGI:anna]
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Allelic Composition: Dlg1tm1Jhm/Dlg1tm1Jhm
Genetic Background: involves: 129 * C57BL/6J

 MP:0011484 abnormal ureter urothelium morphology "any structural anomaly of the epithelial lining of the luminal space of the ureter" [MGI:csmith]
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Allelic Composition: Dlg1tm1Taki/Dlg1tm1Taki
Genetic Background: involves: C57BL/6 * CBA

 MP:0011727 ectopic ovary "appearance of an ovary in a region where it is not normally found (topographical anomaly)" [MGI:csmith]
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Allelic Composition: Dlg1tm1Taki/Dlg1tm1Taki
Genetic Background: involves: C57BL/6 * CBA

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000020598 Nrcam / Q810U4 / Neuronal cell adhesion molecule / Q92823*  / reaction / complex
 ENSMUSG00000040490 Lrfn2 / Q80TG9 / Leucine-rich repeat and fibronectin type-III domain-containing protein 2 / Q9ULH4* / leucine rich repeat and fibronectin type III domain containing 2*  / reaction / complex
 ENSMUSG00000030600 Lrfn1 / Q2WF71 / Leucine-rich repeat and fibronectin type III domain-containing protein 1 / Q9P244* / leucine rich repeat and fibronectin type III domain containing 1*  / reaction / complex
 ENSMUSG00000045045 Lrfn4 / Q80XU8 / Leucine-rich repeat and fibronectin type-III domain-containing protein 4 / Q6PJG9* / leucine rich repeat and fibronectin type III domain containing 4*  / complex / reaction






 

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