ENSMUSG00000018698


Mus musculus

Features
Gene ID: ENSMUSG00000018698
  
Biological name :Lhx1
  
Synonyms : Lhx1 / LIM/homeobox protein Lhx1 / P63006
  
Possible biological names infered from orthology : LIM homeobox 1 / P48742
  
Species: Mus musculus
  
Chr. number: 11
Strand: -1
Band: C
Gene start: 84518284
Gene end: 84525535
  
Corresponding Affymetrix probe sets: 10389283 (MoGene1.0st)   1421951_at (Mouse Genome 430 2.0 Array)   1450428_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000018842
Ensembl peptide - ENSMUSP00000138899
Ensembl peptide - ENSMUSP00000090503
NCBI entrez gene - 16869     See in Manteia.
MGI - MGI:99783
RefSeq - NM_008498
RefSeq Peptide - NP_032524
swissprot - A0A087WNK8
swissprot - A0A0A0MQA9
swissprot - P63006
swissprot - Q569N5
Ensembl - ENSMUSG00000018698
  

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 lhx1aENSDARG00000014018Danio rerio
 lhx1bENSDARG00000007944Danio rerio
 LHX1ENSGALG00000005409Gallus gallus
 LHX1ENSG00000273706Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Lhx5 / P61375 / LIM homeobox protein 5 / Q9H2C1* / LIM homeobox 5*ENSMUSG0000002959575
Lhx4 / P53776 / LIM/homeobox protein Lhx4 / Q969G2* / LIM homeobox 4*ENSMUSG0000002646836
Lhx3 / P50481 / LIM homeobox protein 3 / Q9UBR4* / LIM homeobox 3*ENSMUSG0000002693436
Lmx1b / LIM homeobox transcription factor 1 beta / O60663*ENSMUSG0000003876530
Lmx1a / Q9JKU8 / LIM homeobox transcription factor 1-alpha / Q8TE12*ENSMUSG0000002668629
Isl2 / Q9CXV0 / Insulin enhancer protein ISL-2 / Q96A47* / ISL LIM homeobox 2*ENSMUSG0000003231825
Lhx2 / Q9Z0S2 / LIM/homeobox protein Lhx2 / P50458* / LIM homeobox 2*ENSMUSG0000000024725
Lhx9 / Q9WUH2 / LIM/homeobox protein Lhx9 / Q9NQ69* / LIM homeobox 9*ENSMUSG0000001923025
Isl1 / P61372 / Insulin enhancer protein ISL-1 / P61371* / ISL LIM homeobox 1*ENSMUSG0000004225824
Lhx6 / Q9R1R0 / Mus musculus LIM homeobox protein 6 (Lhx6), transcript variant 5, mRNA. / Q9UPM6* / LIM homeobox 6*ENSMUSG0000002689023
Lhx8 / O35652 / LIM/homeobox protein Lhx8 / Q68G74* / LIM homeobox 8*ENSMUSG0000009622521
Lmo4 / P61969 / LIM domain transcription factor LMO4 / P61968* / LIM domain only 4*ENSMUSG0000002826614
Lmo1 / Q924W9 / Rhombotin-1 / P25800* / LIM domain only 1*ENSMUSG0000003611112
Lmo3 / Q8BZL8 / Mus musculus LIM domain only 3 (Lmo3), transcript variant 2, mRNA. / Q8TAP4* / LIM domain only 3*ENSMUSG0000003022611
Lmo2 / P25801 / Rhombotin-2 / P25791* / LIM domain only 2*ENSMUSG0000003269810


Protein motifs (from Interpro)
Interpro ID Name
 IPR001356  Homeobox domain
 IPR001781  Zinc finger, LIM-type
 IPR009057  Homeobox-like domain superfamily
 IPR017970  Homeobox, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001655 urogenital system development IMP
 biological_processGO:0001656 metanephros development IEP
 biological_processGO:0001657 ureteric bud development IMP
 biological_processGO:0001658 branching involved in ureteric bud morphogenesis IEP
 biological_processGO:0001702 gastrulation with mouth forming second IMP
 biological_processGO:0001705 ectoderm formation IGI
 biological_processGO:0001706 endoderm formation IMP
 biological_processGO:0001822 kidney development IMP
 biological_processGO:0001823 mesonephros development IEP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IDA
 biological_processGO:0007267 cell-cell signaling IGI
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007389 pattern specification process IMP
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0008045 motor neuron axon guidance IMP
 biological_processGO:0009653 anatomical structure morphogenesis IMP
 biological_processGO:0009791 post-embryonic development IMP
 biological_processGO:0009880 embryonic pattern specification IGI
 biological_processGO:0009948 anterior/posterior axis specification IGI
 biological_processGO:0009952 anterior/posterior pattern specification IGI
 biological_processGO:0009953 dorsal/ventral pattern formation IGI
 biological_processGO:0010468 regulation of gene expression IMP
 biological_processGO:0010842 retina layer formation IMP
 biological_processGO:0021510 spinal cord development IEP
 biological_processGO:0021517 ventral spinal cord development IEP
 biological_processGO:0021527 spinal cord association neuron differentiation IGI
 biological_processGO:0021537 telencephalon development IEP
 biological_processGO:0021549 cerebellum development IGI
 biological_processGO:0021702 cerebellar Purkinje cell differentiation IGI
 biological_processGO:0021871 forebrain regionalization IGI
 biological_processGO:0021937 cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation IGI
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0032525 somite rostral/caudal axis specification IMP
 biological_processGO:0035502 metanephric part of ureteric bud development IEA
 biological_processGO:0035846 oviduct epithelium development IMP
 biological_processGO:0035847 uterine epithelium development IMP
 biological_processGO:0035849 nephric duct elongation IMP
 biological_processGO:0035852 horizontal cell localization IMP
 biological_processGO:0040019 positive regulation of embryonic development IMP
 biological_processGO:0044344 cellular response to fibroblast growth factor stimulus IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IMP
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IMP
 biological_processGO:0048646 anatomical structure formation involved in morphogenesis IMP
 biological_processGO:0048703 embryonic viscerocranium morphogenesis IMP
 biological_processGO:0048793 pronephros development IEP
 biological_processGO:0060041 retina development in camera-type eye IEP
 biological_processGO:0060059 embryonic retina morphogenesis in camera-type eye IMP
 biological_processGO:0060065 uterus development IMP
 biological_processGO:0060066 oviduct development IMP
 biological_processGO:0060067 cervix development IMP
 biological_processGO:0060068 vagina development IMP
 biological_processGO:0060322 head development IGI
 biological_processGO:0060429 epithelium development IMP
 biological_processGO:0061205 paramesonephric duct development IMP
 biological_processGO:0072001 renal system development IGI
 biological_processGO:0072049 comma-shaped body morphogenesis IMP
 biological_processGO:0072050 S-shaped body morphogenesis IMP
 biological_processGO:0072077 renal vesicle morphogenesis IMP
 biological_processGO:0072164 mesonephric tubule development IEA
 biological_processGO:0072177 mesonephric duct development IEA
 biological_processGO:0072178 nephric duct morphogenesis IMP
 biological_processGO:0072224 metanephric glomerulus development IEA
 biological_processGO:0072278 metanephric comma-shaped body morphogenesis IEA
 biological_processGO:0072283 metanephric renal vesicle morphogenesis IEP
 biological_processGO:0072284 metanephric S-shaped body morphogenesis IEP
 biological_processGO:0090009 primitive streak formation IMP
 biological_processGO:0090190 positive regulation of branching involved in ureteric bud morphogenesis IMP
 biological_processGO:0097477 lateral motor column neuron migration IMP
 biological_processGO:2000543 positive regulation of gastrulation IMP
 biological_processGO:2000744 positive regulation of anterior head development IMP
 biological_processGO:2000768 positive regulation of nephron tubule epithelial cell differentiation IMP
 cellular_componentGO:0005622 intracellular IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0032991 protein-containing complex IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IMP
 molecular_functionGO:0003714 transcription corepressor activity ISS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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: Afmidtm1b(EUCOMM)Wtsi/Afmid+
Genetic Background: C57BL/6N-Afmidtm1b(EUCOMM)Wtsi/H

 MP:0000269 abnormal looping morphogenesis "atypical bending of the primitive heart tube during early development" [J:27443]
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Allelic Composition: Lhx1tm1Bhr/Lhx1tm2.1Rob,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S/SvEv * C57BL/6 * C57BL/6N * CBA

 MP:0000291 enlarged pericardium "extended fibroserous membrane covering the heart and beginning of the great vessels" [J:29971]
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Allelic Composition: Lhx1tm1Bhr/Lhx1tm2.1Rob,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S/SvEv * C57BL/6 * C57BL/6N * CBA

 MP:0000316 cellular necrosis "pathologic death of cells, usually from irreversible damage" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Lhx1tm1Bhr/Lhx1tm2.1Rob,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S/SvEv * C57BL/6 * C57BL/6N * CBA

 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: Lhx1tm1Bhr/Lhx1+,Ssbp3Tg(SOD1)1Hssk/Ssbp3+
Genetic Background: involves: 129S7/SvEvBrd * C3H/He * C57BL/6 * ICR

 MP:0000519 hydronephrosis "dilation of the pelvis and calices of one or both kidneys" [J:56641]
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Allelic Composition: Sod1tm1Leb/Sod1+
Genetic Background: B6;129S-Sod1tm1Leb/J

Allelic Composition: Lhx1tm1Tmj/Lhx1tm2.1Bhr,Tg(Pax2-cre)10Shwl/0
Genetic Background: involves: 129S1/SvEv * C57BL/6 * CD-1 * SJL

 MP:0000520 absent kidney "missing paired organs that excrete urine" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49471]
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Allelic Composition: Syt1tm4Sud/Syt1tm4Sud
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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: Sod1tm1Leb/Sod1+
Genetic Background: B6;129S-Sod1tm1Leb/J

 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: Gnaztm1Lfb/Gnaztm1Lfb
Genetic Background: involves: 129/Sv * C57BL/6 * C57BL/6J * SJL

 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: Sod1tm1Leb/Sod1+
Genetic Background: B6;129S-Sod1tm1Leb/J

 MP:0000538 abnormal urinary bladder morphology "malformation of the inflatable musculomembranous bag for holding urine" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Sod1tm1Leb/Sod1+
Genetic Background: B6;129S-Sod1tm1Leb/J

 MP:0000787 abnormal telencephalon morphology "any malformation or absence of the paired anteriolateral division of the prosencephalon plus the lamina terminalis from which the olfactory lobes, cerebral cortex, and subcortical nuclei are derived " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Lhx1tm1Bhr/Lhx1+,Pgap1oto/Pgap1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J

Allelic Composition: Lhx1tm1Bhr/Lhx1+,Pgap1oto/Pgap1oto
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J

 MP:0000830 abnormal diencephalon morphology "any malformation or absence of the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Lhx1tm1Bhr/Lhx1+,Pgap1oto/Pgap1oto
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J

 MP:0000852 small cerebellum "reduced size of cerebellum" [MGI:CLS, J:17203, J:67524]
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Allelic Composition: En1tm2(cre)Wrst/En1+,Lhx1tm2.1Bhr/Lhx1tm2.1Bhr
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ

Allelic Composition: En1tm2(cre)Wrst/En1+,Lhx1tm1Tmj/Lhx1tm2.1Bhr,Lhx5tm1Lmgd/Lhx5tm1Lmgd
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ

 MP:0000853 absent cerebellar foliation "missing small branches of the cerebellar lobules" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3, tc:Teresa Chu , Mouse Genome Informatics Curator, J:60896]
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Allelic Composition: En1tm2(cre)Wrst/En1+,Lhx1tm2.1Bhr/Lhx1tm2.1Bhr
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ

 MP:0000880 decreased Purkinje cell number "fewer than normal neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:45302]
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Allelic Composition: En1tm2(cre)Wrst/En1+,Lhx1tm2.1Bhr/Lhx1tm2.1Bhr
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ

Allelic Composition: En1tm2(cre)Wrst/En1+,Lhx1tm1Tmj/Lhx1tm2.1Bhr,Lhx5tm1Lmgd/Lhx5tm1Lmgd
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ

 MP:0000913 abnormal brain development "malformed or incomplete differentiation of the brain" [MGI:cls, J:49840]
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Allelic Composition: Syt1tm4Sud/Syt1tm4Sud
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000955 abnormal spinal cord morphology "malformation or disorganization of the cylindrical tissue of the vertebral canal that extends from the medulla oblongata to the conus medullaris" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Syt1tm4Sud/Syt1tm4Sud
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001119 abnormal female reproductive anatomy "anomalous structure of the organs associated with producing offspring in the gender that bears the offspring" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Prkdcscid/Prkdcscid,Iduatm1Clk/Iduatm1Clk
Genetic Background: NOD.129(B6)-Prkdcscid Iduatm1Clk/J

 MP:0001121 uterine hypoplasia "reduced size of the uterus due to decreased cell number" [J:45065]
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Allelic Composition: Sod1tm1Leb/Sod1+
Genetic Background: B6;129S-Sod1tm1Leb/J

 MP:0001145 abnormal male reproductive anatomy "anomalous structure of the organs associated with producing offspring in the gender that produces spermatozoa" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Prkdcscid/Prkdcscid,Iduatm1Clk/Iduatm1Clk
Genetic Background: NOD.129(B6)-Prkdcscid Iduatm1Clk/J

 MP:0001685 abnormal endoderm development "failure or abnormality in the formation of the endoderm during gastrulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Lhx1tm1Bhr/Lhx1tm2.1Rob,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S/SvEv * C57BL/6 * C57BL/6N * CBA

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Syt1tm4Sud/Syt1tm4Sud
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001701 incomplete embryo turning "arrest of the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (E8.5-E9.5)" [J:62571]
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Allelic Composition: Syt1tm4Sud/Syt1tm4Sud
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001726 abnormal allantois "malformed fetal membrane which contributes to the formation of the umbilical cord and placenta" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:12622]
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Allelic Composition: Syt1tm4Sud/Syt1tm4Sud
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002084 abnormal developmental patterning "abnormal systematic arrangement of the developing body along an axis" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Lhx1tm1Bhr/Lhx1+,Pgap1oto/Pgap1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J

 MP:0002135 abnormal kidney morphology "abnormal development of the kidney resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gnaztm1Lfb/Gnaztm1Lfb
Genetic Background: involves: 129/Sv * C57BL/6 * C57BL/6J * SJL

 MP:0002151 abnormal neural tube morphology/development "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hfetm2Nca/Hfetm2Nca,Tg(Ttr-Hfe)1Nca/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0002152 abnormal brain morphology "anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]
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Allelic Composition: Lhx1tm1Bhr/Lhx1+,Pgap1oto/Pgap1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J

Allelic Composition: Lhx1tm1Bhr/Lhx1+,Pgap1oto/Pgap1oto
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * STOCK In(1)1Rk/J

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Lhx1tm1Bhr/Lhx1+,Ssbp3Tg(SOD1)1Hssk/Ssbp3+
Genetic Background: involves: 129S7/SvEvBrd * C3H/He * C57BL/6 * ICR

Allelic Composition: En1tm2(cre)Wrst/En1+,Lhx1tm2.1Bhr/Lhx1tm2.1Bhr
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ

Allelic Composition: Cer1tm1Bhr/Cer1tm1Bhr,Lhx1tm1Bhr/Lhx1+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0002174 abnormal gastrulation movements "failure of embryonic cells to migrate, or migrate to the appropriate target during the development and invagination of the primary germ layers" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:52418]
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Allelic Composition: Syt1tm4Sud/Syt1tm4Sud
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002230 abnormal primitive streak formation "anomaly in the establishment of the midline ridge of embryonic epiblast that later develops into mesoderm and endoderm" [The Atlas of Mouse Development:ISBN 0-12-402035-6, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Foxa2tm1Jrt/Foxa2tm1Jrt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002961 abnormal axon guidance "defect in the signaling mechanisms that allow precise navigation and connections of axonal growth cones to effector tissues " [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Rettm1Kln/Rettm1Kln,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * CBA/J * SJL

Allelic Composition: Lhx1tm1Tmj/Lhx1+,Rettm1Kln/Rettm1Kln,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * CBA/J * SJL

 MP:0002966 decreased circulating alkaline phosphatase level "reduced activity of this enzyme, which hydrolyzes orthophosphoric monoesters, found in the blood" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Hprttm1a(EUCOMM)Hmgu/Hprttm1a(EUCOMM)Hmgu
Genetic Background: C57BL/6N-Hprttm1a(EUCOMM)Hmgu/Ieg

 MP:0002989 small kidney "reduced physical bulk one or both of the organs responsible for urine secretion" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Lhx1tm1Tmj/Lhx1tm2.1Bhr,Tg(Pax2-cre)10Shwl/0
Genetic Background: involves: 129S1/SvEv * C57BL/6 * CD-1 * SJL

 MP:0003085 abnormal egg cylinder morphology "anomaly in the transient cup-like structure of the epiblast that consists of a single layer of embryonic cells" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Syt1tm4Sud/Syt1tm4Sud
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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: Sod1tm1Leb/Sod1+
Genetic Background: B6;129S-Sod1tm1Leb/J

Allelic Composition: Lhx1tm2.1Bhr/Lhx1tm1Tmj,Tg(Rarb-cre)1Bhr/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

Allelic Composition: Lhx1tm1Tmj/Lhx1tm2.1Bhr,Tg(Pax2-cre)10Shwl/0
Genetic Background: involves: 129S1/SvEv * C57BL/6 * CD-1 * SJL

 MP:0003557 absent vas deferens "absence of the secretory duct of the testicle that carries spermatozoa, running from the epididymis, of which it is the continuation, to the prostatic urethra where it terminates to form ejaculatory duct" [ncbi:Matthew Mailman, NCBI request, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Sod1tm1Leb/Sod1+
Genetic Background: B6;129S-Sod1tm1Leb/J

 MP:0003558 absent uterus "absence of the female muscular organ of gestation" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Sod1tm1Leb/Sod1+
Genetic Background: B6;129S-Sod1tm1Leb/J

 MP:0003578 absent ovary "absence of the female reproductive gland containing the germ cells" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Syt1tm4Sud/Syt1tm4Sud
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003604 single kidney 
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Allelic Composition: Lhx1tm1Tmj/Lhx1tm2.1Bhr,Tg(Pax2-cre)10Shwl/0
Genetic Background: involves: 129S1/SvEv * C57BL/6 * CD-1 * SJL

 MP:0003613 abnormal kidney medulla development 
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Allelic Composition: Lhx1tm2.1Bhr/Lhx1tm1Tmj,Tg(Rarb-cre)1Bhr/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

 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: Sod1tm1Leb/Sod1+
Genetic Background: B6;129S-Sod1tm1Leb/J

 MP:0003722 absent ureter "missing the tube that conducts the urine from the renal pelvis to the bladder" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Prkdcscid/Prkdcscid,Iduatm1Clk/Iduatm1Clk
Genetic Background: NOD.129(B6)-Prkdcscid Iduatm1Clk/J

 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: Sod1tm1Leb/Sod1+
Genetic Background: B6;129S-Sod1tm1Leb/J

 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: Lhx1tm1Tmj/Lhx1tm2.1Bhr,Tg(Pax2-cre)10Shwl/0
Genetic Background: involves: 129S1/SvEv * C57BL/6 * CD-1 * SJL

 MP:0003861 abnormal nervous system development "impaired or altered growth of the components of the nervous system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Lhx1tm1Bhr/Lhx1tm2.1Rob,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S/SvEv * C57BL/6 * C57BL/6N * CBA

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Lhx1tm1Bhr/Lhx1+,Ssbp3Tg(SOD1)1Hssk/Ssbp3+
Genetic Background: involves: 129S7/SvEvBrd * C3H/He * C57BL/6 * ICR

Allelic Composition: Lhx1tm1Bhr/Lhx1tm2.1Rob,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S/SvEv * C57BL/6 * C57BL/6N * CBA

 MP:0004017 duplex kidney "a kidney that is split into two separate collecting systems; there may be a duplex ureter or a single ureter; may present unilaterally or bilaterally" [rbabiuk:Randall Babiuk, Mouse Genome Informatics Curator]
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Allelic Composition: Lhx1tm1Tmj/Lhx1tm2.1Bhr,Tg(Pax2-cre)10Shwl/0
Genetic Background: involves: 129S1/SvEv * C57BL/6 * CD-1 * SJL

 MP:0004066 abnormal Henson s node morphology "malformation of cells in the small pit at the anterior end of the primitive streak that are important in determining left-right asymmetry" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Syt1tm4Sud/Syt1tm4Sud
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Lhx1tm1Bhr/Lhx1tm2.1Rob,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S/SvEv * C57BL/6 * C57BL/6N * CBA

 MP:0004180 failure of initiation of embryo turning "failure to begin the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (E8.5-E9.5)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Lhx1tm1Bhr/Lhx1+,Ssbp3Tg(SOD1)1Hssk/Ssbp3+
Genetic Background: involves: 129S7/SvEvBrd * C3H/He * C57BL/6 * ICR

 MP:0004187 cardia bifida "failure of the bilateral myocardial cells to coalesce into a single central heart tube resulting in the presence of two independent hearts" [smb:Susan M Bello, Mouse Genome Informatics Curator ""]
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Allelic Composition: Lhx1tm1Bhr/Lhx1tm2.1Rob,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: 129S/SvEv * C57BL/6 * C57BL/6N * CBA

 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: Sod1tm1Leb/Sod1+
Genetic Background: B6;129S-Sod1tm1Leb/J

 MP:0004557 dilated allantois "an expansion in the volume of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels, as by stretching or distention" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Syt1tm4Sud/Syt1tm4Sud
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004559 small allantois "reduced size of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Syt1tm4Sud/Syt1tm4Sud
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004727 absent epididymis "absence of the elongated structure connected to the posterior surface of the testis, consisting of the head, body, and tail, which turns sharply on itself to become the ductus deferens (vas deferens)" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Sod1tm1Leb/Sod1+
Genetic Background: B6;129S-Sod1tm1Leb/J

 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: Lhx1tm1Tmj/Lhx1tm2.1Bhr,Tg(Pax2-cre)10Shwl/0
Genetic Background: involves: 129S1/SvEv * C57BL/6 * CD-1 * SJL

 MP:0005221 abnormal rostral-caudal axis patterning "anomaly in the development or formation of the axis that runs from the head to the tail of the body" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Foxa2tm1Jrt/Foxa2tm1Jrt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005644 agonadal "denoting the absence of gonads" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Syt1tm4Sud/Syt1tm4Sud
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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:]
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Allelic Composition: Sod1tm1Leb/Sod1+
Genetic Background: B6;129S-Sod1tm1Leb/J

 MP:0006108 abnormal hindbrain development "anomaly in the formation or pattering of the caudal region of the brain" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93573]
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Allelic Composition: Syt1tm4Sud/Syt1tm4Sud
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0006415 absent testes "absence of the male reproductive glands containing the germ cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Syt1tm4Sud/Syt1tm4Sud
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0006425 absent Mullerian ducts "absence of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina" [J:40605, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Sod1tm1Leb/Sod1+
Genetic Background: B6;129S-Sod1tm1Leb/J

 MP:0006426 Mullerian duct degeneration "a retrogressive impairment of function or destruction of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina" [J:30343, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Sod1tm1Leb/Sod1+
Genetic Background: B6;129S-Sod1tm1Leb/J

 MP:0008487 abnormal mesonephros morphology "any structural anomaly of the excretory organ of the embryo, collective Wolffian tubules, which forms the urogenital fold from which the reproductive organs develop" [MESH:A16.254.500]
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Allelic Composition: Sod1tm1Leb/Sod1+
Genetic Background: B6;129S-Sod1tm1Leb/J

 MP:0009074 Wolffian duct degeneration "a retrogressive impairment of function or destruction of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Sod1tm1Leb/Sod1+
Genetic Background: B6;129S-Sod1tm1Leb/J

Allelic Composition: Lhx1tm1Tmj/Lhx1tm2.1Bhr,Tg(Pax2-cre)10Shwl/0
Genetic Background: involves: 129S1/SvEv * C57BL/6 * CD-1 * SJL

 MP:0009075 rudimentary Wolffian ducts "not fully developed or remnants of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Lhx1tm1Tmj/Lhx1tm2.1Bhr,Tg(Pax2-cre)10Shwl/0
Genetic Background: involves: 129S1/SvEv * C57BL/6 * CD-1 * SJL

 MP:0009076 rudimentary Mullerian ducts "not fully developed or remnants of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and cranial vagina" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Sod1tm1Leb/Sod1+
Genetic Background: B6;129S-Sod1tm1Leb/J

Allelic Composition: Lhx1tm1Tmj/Lhx1tm2.1Bhr,Tg(Pax2-cre)10Shwl/0
Genetic Background: involves: 129S1/SvEv * C57BL/6 * CD-1 * SJL

 MP:0009579 acephaly "congenital absence of the head" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Syt1tm4Sud/Syt1tm4Sud
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0009718 absent Purkinje cell layer "there is no evidence of the cell layer that lies just underneath the molecular layer of the cerebellar cortex, normally containing the neuronal cell bodies of the Purkinje cells arranged side by side in a single layer, and candelabrum interneurons vertically oriented between the Purkinje cells" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: En1tm2(cre)Wrst/En1+,Lhx1tm2.1Bhr/Lhx1tm2.1Bhr
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ

Allelic Composition: En1tm2(cre)Wrst/En1+,Lhx1tm1Tmj/Lhx1tm2.1Bhr,Lhx5tm1Lmgd/Lhx5tm1Lmgd
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ

 MP:0010982 abnormal ureteric bud elongation "any anomaly in the process in which a ureteric bud grows along its axis" [GO:0060677]
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Allelic Composition: Lhx1tm1Tmj/Lhx1tm2.1Bhr,Tg(Pax2-cre)10Shwl/0
Genetic Background: involves: 129S1/SvEv * C57BL/6 * CD-1 * SJL

 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: Lhx1tm2.1Bhr/Lhx1tm1Tmj,Tg(Rarb-cre)1Bhr/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

Allelic Composition: Lhx1tm1Tmj/Lhx1tm2.1Bhr,Tg(Pax2-cre)10Shwl/0
Genetic Background: involves: 129S1/SvEv * C57BL/6 * CD-1 * SJL

Allelic Composition: Lhx1tm4Bhr/Lhx1tm4Bhr,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Syt1tm4Sud/Syt1tm4Sud
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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: Hfetm2Nca/Hfetm2Nca,Tg(Ttr-Hfe)1Nca/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0011108 partial embryonic lethality during organogenesis "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 embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Syt1tm4Sud/Syt1tm4Sud
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0011290 decreased nephron number "reduction in the total number of filtering units of the kidney" [MGI:anna]
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Allelic Composition: Sod1tm1Leb/Sod1+
Genetic Background: B6;129S-Sod1tm1Leb/J

 MP:0011292 absent nephron "complete absence of functional filtering units in the kidney" [MGI:anna]
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Allelic Composition: Lhx1tm2.1Bhr/Lhx1tm1Tmj,Tg(Rarb-cre)1Bhr/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

 MP:0011354 absent renal glomerulus "complete absence of the tuft formed of capillary loops and mesangium at the beginning of each nephretic tubule in the kidney that normally function as a filtration unit" [ISBN:0-683-40008-8]
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Allelic Composition: Lhx1tm2.1Bhr/Lhx1tm1Tmj,Tg(Rarb-cre)1Bhr/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

 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: Sod1tm1Leb/Sod1+
Genetic Background: B6;129S-Sod1tm1Leb/J

Allelic Composition: Lhx1tm2.1Bhr/Lhx1tm1Tmj,Tg(Rarb-cre)1Bhr/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

 MP:0011366 absent metanephros "absence 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: Prkdcscid/Prkdcscid,Iduatm1Clk/Iduatm1Clk
Genetic Background: NOD.129(B6)-Prkdcscid Iduatm1Clk/J

 MP:0011486 ectopic ureter "an abnormally placed opening of the ureter, either into the urinary bladder or at another site in the lower urinary or genital tract" [MGI:anna]
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Allelic Composition: Sod1tm1Leb/Sod1+
Genetic Background: B6;129S-Sod1tm1Leb/J

 MP:0012087 absent midbrain "absence of the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes" [MGI:anna]
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Allelic Composition: Syt1tm4Sud/Syt1tm4Sud
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Lhx1tm3.1Bhr/Lhx1tm3.1Bhr
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0012135 embryonic-extraembryonic boundary constriction "an invagination or pinching in the visceral endoderm that is centered at the boundary between embryonic and extra-embryonic regions of the developing embryo, often resulting in physical separation of embryonic and extraembryonic ectoderm" [MGI:csmith]
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Allelic Composition: Syt1tm4Sud/Syt1tm4Sud
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Lhx1tm3.1Bhr/Lhx1tm3.1Bhr
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0012136 absent forebrain "absence of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions)" [GO:0048853]
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Allelic Composition: Syt1tm4Sud/Syt1tm4Sud
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Lhx1tm3.1Bhr/Lhx1tm3.1Bhr
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0012156 rostral-caudal axis duplication "partial or complete duplication of rostral-caudal axis structures" [MGI:anna]
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Allelic Composition: Syt1tm4Sud/Syt1tm4Sud
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0012276 absent prechordal mesoderm "absence of or failure to form the area of axial mesoderm that develops into the prechordal plate" [MGI:anna]
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Allelic Composition: Syt1tm4Sud/Syt1tm4Sud
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0012685 abnormal primitive streak elongation "any anomaly in the process by which the primitive streak extends anteriorly and elongates towards the distal (cranial) end of the embryo to reach its full length" [MGI:anna]
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Allelic Composition: Foxa2tm1Jrt/Foxa2tm1Jrt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Lhx1tm3.1Bhr/Lhx1tm3.1Bhr
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0030324 abnormal anterior head development "any anomaly in the process in which the anatomical structures of the anterior part of the head are generated and organized" [GO:0097065, MGI:anna]
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Allelic Composition: Syt1tm4Sud/Syt1tm4Sud
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Lhx1tm1Bhr/Lhx1tm1Tmj
Genetic Background: involves: 129S/SvEv * C57BL/6

Allelic Composition: Lhx1tm3.1Bhr/Lhx1tm3.1Bhr
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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