ENSMUSG00000058454


Mus musculus

Features
Gene ID: ENSMUSG00000058454
  
Biological name :Dhcr7
  
Synonyms : 7-dehydrocholesterol reductase / Dhcr7 / O88455
  
Possible biological names infered from orthology : Q9UBM7
  
Species: Mus musculus
  
Chr. number: 7
Strand: 1
Band: F5
Gene start: 143823145
Gene end: 143848410
  
Corresponding Affymetrix probe sets: 10559312 (MoGene1.0st)   1442696_at (Mouse Genome 430 2.0 Array)   1448619_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000119855
Ensembl peptide - ENSMUSP00000146947
Ensembl peptide - ENSMUSP00000146937
Ensembl peptide - ENSMUSP00000146636
Ensembl peptide - ENSMUSP00000121782
Ensembl peptide - ENSMUSP00000119984
Ensembl peptide - ENSMUSP00000073541
Ensembl peptide - ENSMUSP00000117659
Ensembl peptide - ENSMUSP00000118957
NCBI entrez gene - 13360     See in Manteia.
MGI - MGI:1298378
RefSeq - XM_006508476
RefSeq - XM_006508478
RefSeq - XM_006508479
RefSeq - NM_007856
RefSeq - XM_006508481
RefSeq - XM_011241979
RefSeq - XM_006508480
RefSeq Peptide - NP_031882
swissprot - O88455
swissprot - D3YXR4
swissprot - A0A140LIT2
swissprot - A0A140LIS4
swissprot - A0A140LI18
swissprot - D3Z7G1
swissprot - Q711T1
Ensembl - ENSMUSG00000058454
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 dhcr7ENSDARG00000103226Danio rerio
 DHCR7ENSGALG00000004106Gallus gallus
 DHCR7ENSG00000172893Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Lbr / Q3U9G9 / Lamin-B receptor / Q14739*ENSMUSG0000000488032


Protein motifs (from Interpro)
Interpro ID Name
 IPR001171  Ergosterol biosynthesis ERG4/ERG24
 IPR018083  Sterol reductase, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001568 blood vessel development IMP
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006694 steroid biosynthetic process IEA
 biological_processGO:0006695 cholesterol biosynthetic process ISO
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0008203 cholesterol metabolic process IEA
 biological_processGO:0009791 post-embryonic development IMP
 biological_processGO:0016126 sterol biosynthetic process IMP
 biological_processGO:0016132 brassinosteroid biosynthetic process IBA
 biological_processGO:0030154 cell differentiation IMP
 biological_processGO:0030324 lung development IMP
 biological_processGO:0035264 multicellular organism growth IMP
 biological_processGO:0042127 regulation of cell proliferation IMP
 biological_processGO:0045540 regulation of cholesterol biosynthetic process IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005640 nuclear outer membrane IEA
 cellular_componentGO:0005783 endoplasmic reticulum ISO
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030176 integral component of endoplasmic reticulum membrane IBA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 molecular_functionGO:0009918 sterol delta7 reductase activity IBA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor IEA
 molecular_functionGO:0047598 7-dehydrocholesterol reductase activity ISO
 molecular_functionGO:0050661 NADP binding ISS


Pathways (from Reactome)
Pathway description
Cholesterol biosynthesis via desmosterol
Cholesterol biosynthesis via lathosterol


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000539 distended urinary bladder "stretched musculomembranous bag for holding urine" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cdkn1btm3Jro/Cdkn1b+
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: involves: 129P2/OlaHsd

 MP:0000564 syndactyly "any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Dhcr7tm2Fdp/Dhcr7tm2Fdp
Genetic Background: involves: 129S4/SvJae

 MP:0000746 weakness "state of being infirm or less strong than littermates" [J:45400]
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Allelic Composition: Cdkn1btm3Jro/Cdkn1b+
Genetic Background: involves: 129S4/SvJaeSor

 MP:0000774 reduced brain size "smaller appearance of the brain" [J:35802]
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Allelic Composition: Cdkn1btm3Jro/Cdkn1b+
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Dhcr7tm1Fdp/Dhcr7tm2Fdp
Genetic Background: involves: 129S4/SvJae

 MP:0000780 abnormal corpus callosum morphology "malformation or absence of a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres" [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: Dhcr7tm1Fdp/Dhcr7tm2Fdp
Genetic Background: involves: 129S4/SvJae

 MP:0000825 dilated lateral ventricles "increase over the normal size of the horseshoe-shaped cavities of the cerebrum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:38857]
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Allelic Composition: Htttm3Szi/Htt+
Genetic Background: involves: 129S1/Sv

Allelic Composition: Dhcr7tm1Fdp/Dhcr7tm2Fdp
Genetic Background: involves: 129S4/SvJae

 MP:0000827 dilated third ventricle "enlarged narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Htttm3Szi/Htt+
Genetic Background: involves: 129S1/Sv

Allelic Composition: Dhcr7tm1Fdp/Dhcr7tm2Fdp
Genetic Background: involves: 129S4/SvJae

 MP:0000913 abnormal brain development "malformed or incomplete differentiation of the brain" [MGI:cls, J:49840]
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Allelic Composition: Cdkn1btm3Jro/Cdkn1b+
Genetic Background: involves: 129S4/SvJaeSor

 MP:0001175 abnormal lung morphology "malformed organ of respiration" [J:35802]
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Allelic Composition: Dstdt-J/Dstdt-J
Genetic Background: C3HeB/FeJ-Dstdt-J

Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: B6.129P2-Dhcr7tm1Gst

 MP:0001176 abnormal lung development "malformation or arrest of differentiation of the organs of respiration" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]
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Allelic Composition: Dstdt-J/Dstdt-J
Genetic Background: C3HeB/FeJ-Dstdt-J

Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: B6.129P2-Dhcr7tm1Gst

 MP:0001177 atelectasis "collapse of the lung or any portion of the lung, or decreased or absent air in the lung, resulting in loss of lung volume " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cdkn1btm3Jro/Cdkn1b+
Genetic Background: involves: 129S4/SvJaeSor

 MP:0001178 pulmonary hypoplasia "reduced size of the respiratory organ due to incomplete development of all or part of the organ " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Pathology , 2nd edition:ISBN 0-397-51047-0]
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Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: B6.129P2-Dhcr7tm1Gst

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
Show

Allelic Composition: Cdkn1btm3Jro/Cdkn1b+
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: involves: 129P2/OlaHsd

 MP:0001404 no spontaneous movement "failure to make any change in position or posture" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
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Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: B6.129P2-Dhcr7tm1Gst

 MP:0001435 no suckling reflex "inability to orient and open/close mouth in sucking pattern in response to external light touching or stroking of the chin" [J:56847]
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Allelic Composition: Dstdt-J/Dstdt-J
Genetic Background: C3HeB/FeJ-Dstdt-J

 MP:0001436 abnormal suckling behavior "reduced ability or inability to exert suction by the mouth, or atypical suckling pattern" [J:16461]
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Allelic Composition: Cdkn1btm3Jro/Cdkn1b+
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst,Tg(APOE-DHCR7)2Hoyu/0
Genetic Background: involves: 129P2/OlaHsd * C57BL * C57BL/6J * FVB/N

 MP:0001437 no swallowing reflex "inability to pull food through the esophagus to the stomach in response to feeding" [J:56847]
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Allelic Composition: Cdkn1btm3Jro/Cdkn1b+
Genetic Background: involves: 129S4/SvJaeSor

 MP:0001529 abnormal vocalization "an inability, decreased ability or altered ability to produce sound from the vocal organs; or a general increase or decrease in the production of vocal sound" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator, J:85479]
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Allelic Composition: Cdkn1btm3Jro/Cdkn1b+
Genetic Background: involves: 129S4/SvJaeSor

 MP:0001547 abnormal lipid level "anomalous concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Dstdt-J/Dstdt-J
Genetic Background: C3HeB/FeJ-Dstdt-J

Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: B6.129P2-Dhcr7tm1Gst

 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: Cdkn1btm3Jro/Cdkn1b+
Genetic Background: involves: 129S4/SvJaeSor

 MP:0001745 increased circulating corticosterone level "greater than the normal concentration of this adrenocortical steroid; induces glycogen deposition and regulates sodium conservation and potassium secretion" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:54931]
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Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: B6.129P2-Dhcr7tm1Gst

 MP:0001951 abnormal breathing "irregular or atypical breathing pattern " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:17489]
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Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: B6.129P2-Dhcr7tm1Gst

 MP:0001953 respiratory failure "cessation of or failure to commence breathing" [MGI:cls, J:60159]
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Allelic Composition: Dstdt-J/Dstdt-J
Genetic Background: C3HeB/FeJ-Dstdt-J

 MP:0001957 apnea "absence of breathing; sometimes episodic" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17384]
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Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: B6.129P2-Dhcr7tm1Gst

 MP:0002237 abnormal nasal cavity morphology "any structural anomaly of the portion of the respiratory tract that extends from the nares to the pharynx; the nasal cavity is lined with ciliated mucosa" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cdkn1btm3Jro/Cdkn1b+
Genetic Background: involves: 129S4/SvJaeSor

 MP:0002270 abnormal alveoli morphology "any structural anomaly of the outpouching of the respiratory system where gas exchange occurs" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: B6.129P2-Dhcr7tm1Gst

 MP:0002274 abnormal type I pneumocyte morphology "any structural anomaly of the epithelial cells lining the alveoli through which gas exchange occurs; these are thin cells with a large surface area" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Pathology , 2nd edition:ISBN 0-397-51047-0]
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Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: B6.129P2-Dhcr7tm1Gst

 MP:0002296 aspiration "inspiration into the airways of fluid or any foreign material " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cdkn1btm3Jro/Cdkn1b+
Genetic Background: involves: 129S4/SvJaeSor

 MP:0002886 abnormal glutamate receptor currents "change in the measured amplitude or duration of response to stimulation of glutmanergic receptors" [Principles of Neural Science, 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Cdkn1btm3Jro/Cdkn1b+
Genetic Background: involves: 129S4/SvJaeSor

 MP:0003641 small lung "reduced size of the lung relative to normal" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:95332]
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Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: B6.129P2-Dhcr7tm1Gst

 MP:0003947 abnormal cholesterol level "anomaly in the concentration in the body of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Htttm3Szi/Htt+
Genetic Background: involves: 129S1/Sv

Allelic Composition: Dhcr7tm1Fdp/Dhcr7tm2Fdp
Genetic Background: involves: 129S4/SvJae

 MP:0003983 decreased cholesterol level "less than normal concentration in the body of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Cdkn1btm3Jro/Cdkn1b+
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Dhcr7tm2Fdp/Dhcr7tm2Fdp
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Dhcr7tm1Fdp/Dhcr7tm2Fdp
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: B6.129P2-Dhcr7tm1Gst

Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst,Tg(APOE-DHCR7)2Hoyu/0
Genetic Background: involves: 129P2/OlaHsd * C57BL * C57BL/6J * FVB/N

 MP:0004007 abnormal lung vasculature "malformation or disorganization of the blood vessels of the lung" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: B6.129P2-Dhcr7tm1Gst

 MP:0004144 hypotonia "decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness" [hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst,Tg(APOE-DHCR7)2Hoyu/0
Genetic Background: involves: 129P2/OlaHsd * C57BL * C57BL/6J * FVB/N

 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: Cdkn1btm3Jro/Cdkn1b+
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: B6.129P2-Dhcr7tm1Gst

 MP:0005039 hypoxia "reduced concentration of O2 in the blood, alveoli or other tissues resulting in the decreased pressure of this component of body gases" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: B6.129P2-Dhcr7tm1Gst

 MP:0005179 decreased total circulating cholesterol level "less than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst,Tg(APOE-DHCR7)2Hoyu/0
Genetic Background: involves: 129P2/OlaHsd * C57BL * C57BL/6J * FVB/N

 MP:0005278 abnormal cholesterol homeostasis "anomaly in the state of equilibrium in the body of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:71350]
Show

Allelic Composition: Cdkn1btm3Jro/Cdkn1b+
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: involves: 129P2/OlaHsd

 MP:0005319 abnormal enzyme/ coenzyme level "altered concentration of any of these proteins, or their cofactors, that act as catalysts to induce chemical changes in other substances" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: involves: 129P2/OlaHsd

 MP:0005574 decreased breathing frequency "fewer than the normal number of breaths in a given period of time" [RGD:Rat Genome Database submission]
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Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: B6.129P2-Dhcr7tm1Gst

 MP:0005584 abnormal enzyme/coenzyme activity "altered ability of any of these proteins, or their cofactors, to act as catalysts to induce chemical changes in other substances" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: involves: 129P2/OlaHsd

 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: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: B6.129P2-Dhcr7tm1Gst

 MP:0006027 impaired alveologenesis "a block or reduction in the generation of alveoli" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:85546]
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Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst,Tg(APOE-DHCR7)2Hoyu/0
Genetic Background: involves: 129P2/OlaHsd * C57BL * C57BL/6J * FVB/N

 MP:0006382 abnormal lung epithelium morphology "any structural anomaly of the epithelial layer of the lung" [MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: B6.129P2-Dhcr7tm1Gst

 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: Cdkn1btm3Jro/Cdkn1b+
Genetic Background: involves: 129S4/SvJaeSor

 MP:0009674 decreased birth weight "reduction in average weight at birth compared to controls" [RGD:cur "Rat Genome Database submission"]
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Allelic Composition: Cdkn1btm3Jro/Cdkn1b+
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: involves: 129P2/OlaHsd

 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: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: B6.129P2-Dhcr7tm1Gst

 MP:0009888 palatal shelves fail to meet at midline "polarized growth towards the midline following palatal shelf elevation does not occur" [PMID:16942766]
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Allelic Composition: Cdkn1btm3Jro/Cdkn1b+
Genetic Background: involves: 129S4/SvJaeSor

 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: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: involves: 129P2/OlaHsd

 MP:0010026 decreased liver cholesterol level "less than normal amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst,Tg(APOE-DHCR7)2Hoyu/0
Genetic Background: involves: 129P2/OlaHsd * C57BL * C57BL/6J * FVB/N

 MP:0010161 decreased brain cholesterol level "less than normal amount in the brain of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst,Tg(APOE-DHCR7)2Hoyu/0
Genetic Background: involves: 129P2/OlaHsd * C57BL * C57BL/6J * FVB/N

 MP:0010825 abnormal lung saccule morphology "any structural anomaly of the transient dilations of the developing alveolar (or transient) ducts, which transform into a transitory alveolar duct as soon as it develops further branches; the last transitory saccule formed on each pathway is a terminal saccule that develops into an alveolar sac after birth" [GO:0060430, ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: B6.129P2-Dhcr7tm1Gst

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst,Tg(APOE-DHCR7)2Hoyu/0
Genetic Background: involves: 129P2/OlaHsd * C57BL * C57BL/6J * FVB/N

 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: Cdkn1btm3Jro/Cdkn1b+
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Dhcr7tm1Gst/Dhcr7tm1Gst
Genetic Background: B6.129P2-Dhcr7tm1Gst

 MP:0011102 partial embryonic lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
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Allelic Composition: Dhcr7tm1Fdp/Dhcr7tm2Fdp
Genetic Background: involves: 129S4/SvJae

 MP:0012676 dilated brain ventricles "the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord is increased in volume or area, usually with an increase in contained fluid" [MGI:anna]
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Allelic Composition: Dhcr7tm2Fdp/Dhcr7tm2Fdp
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Dhcr7tm1Fdp/Dhcr7tm2Fdp
Genetic Background: involves: 129S4/SvJae

  


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






 

1 s.

 
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