ENSMUSG00000025235


Mus musculus

Features
Gene ID: ENSMUSG00000025235
  
Biological name :Bbs4
  
Synonyms : Bardet-Biedl syndrome 4 protein homolog / Bbs4 / Q8C1Z7
  
Possible biological names infered from orthology : Bardet-Biedl syndrome 4 / Q96RK4
  
Species: Mus musculus
  
Chr. number: 9
Strand: -1
Band: B
Gene start: 59321990
Gene end: 59353508
  
Corresponding Affymetrix probe sets: 10594144 (MoGene1.0st)   1420107_at (Mouse Genome 430 2.0 Array)   1434460_at (Mouse Genome 430 2.0 Array)   1449734_s_at (Mouse Genome 430 2.0 Array)   1455823_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000026265
Ensembl peptide - ENSMUSP00000150973
NCBI entrez gene - 102774     See in Manteia.
MGI - MGI:2143311
RefSeq - XM_006510755
RefSeq - XM_017313095
RefSeq - NM_175325
RefSeq Peptide - NP_780534
swissprot - Q8C1Z7
swissprot - A6H669
swissprot - A0A1L1SV19
Ensembl - ENSMUSG00000025235
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bbs4ENSDARG00000063522Danio rerio
 BBS4ENSGALG00000001798Gallus gallus
 BBS4ENSG00000140463Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ttc8 / Q8VD72 / tetratricopeptide repeat domain 8 / Q8TAM2*ENSMUSG0000002101317


Protein motifs (from Interpro)
Interpro ID Name
 IPR011990  Tetratricopeptide-like helical domain superfamily
 IPR013026  Tetratricopeptide repeat-containing domain
 IPR019734  Tetratricopeptide repeat


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000226 microtubule cytoskeleton organization IMP
 biological_processGO:0000281 mitotic cytokinesis ISO
 biological_processGO:0001764 neuron migration IMP
 biological_processGO:0001843 neural tube closure IMP
 biological_processGO:0001895 retina homeostasis IMP
 biological_processGO:0003085 negative regulation of systemic arterial blood pressure IMP
 biological_processGO:0007098 centrosome cycle ISS
 biological_processGO:0007286 spermatid development IMP
 biological_processGO:0007608 sensory perception of smell IMP
 biological_processGO:0008104 protein localization IMP
 biological_processGO:0010629 negative regulation of gene expression IMP
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016358 dendrite development IMP
 biological_processGO:0019216 regulation of lipid metabolic process IMP
 biological_processGO:0021591 ventricular system development IMP
 biological_processGO:0021756 striatum development IMP
 biological_processGO:0021766 hippocampus development IMP
 biological_processGO:0021987 cerebral cortex development IMP
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0030534 adult behavior IMP
 biological_processGO:0030837 negative regulation of actin filament polymerization IMP
 biological_processGO:0032465 regulation of cytokinesis IEA
 biological_processGO:0033210 leptin-mediated signaling pathway IMP
 biological_processGO:0033365 protein localization to organelle IDA
 biological_processGO:0034260 negative regulation of GTPase activity IMP
 biological_processGO:0034454 microtubule anchoring at centrosome IEA
 biological_processGO:0035176 social behavior IMP
 biological_processGO:0035845 photoreceptor cell outer segment organization IMP
 biological_processGO:0038108 negative regulation of appetite by leptin-mediated signaling pathway IMP
 biological_processGO:0040018 positive regulation of multicellular organism growth IMP
 biological_processGO:0044321 response to leptin IMP
 biological_processGO:0045444 fat cell differentiation IEP
 biological_processGO:0045494 photoreceptor cell maintenance IMP
 biological_processGO:0045724 positive regulation of cilium assembly IMP
 biological_processGO:0046548 retinal rod cell development IMP
 biological_processGO:0048854 brain morphogenesis IMP
 biological_processGO:0051457 maintenance of protein location in nucleus IEA
 biological_processGO:0051492 regulation of stress fiber assembly IMP
 biological_processGO:0060271 cilium assembly IMP
 biological_processGO:0060296 regulation of cilium beat frequency involved in ciliary motility IMP
 biological_processGO:0060324 face development IMP
 biological_processGO:0060613 fat pad development IMP
 biological_processGO:0061512 protein localization to cilium ISO
 biological_processGO:0071539 protein localization to centrosome IEA
 biological_processGO:1902855 regulation of non-motile cilium assembly IMP
 biological_processGO:1903546 protein localization to photoreceptor outer segment IMP
 biological_processGO:1905515 non-motile cilium assembly IMP
 cellular_componentGO:0000242 pericentriolar material IEA
 cellular_componentGO:0001750 photoreceptor outer segment IDA
 cellular_componentGO:0001917 photoreceptor inner segment IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0005814 centriole IEA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005929 cilium ISO
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0031514 motile cilium IMP
 cellular_componentGO:0032391 photoreceptor connecting cilium IDA
 cellular_componentGO:0034451 centriolar satellite ISS
 cellular_componentGO:0034464 BBSome ISO
 cellular_componentGO:0035869 ciliary transition zone ISO
 cellular_componentGO:0036064 ciliary basal body IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0060170 ciliary membrane ISO
 cellular_componentGO:0097730 non-motile cilium IEA
 molecular_functionGO:0001103 RNA polymerase II repressing transcription factor binding ISO
 molecular_functionGO:0003777 microtubule motor activity ISS
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0034452 dynactin binding ISO
 molecular_functionGO:0043014 alpha-tubulin binding ISO
 molecular_functionGO:0048487 beta-tubulin binding ISO


Pathways (from Reactome)
Pathway description
BBSome-mediated cargo-targeting to cilium


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000182 increased circulating LDL cholesterol level "greater than average concentration in the blood of low density lipoprotein, which normally transports cholesterol to tissues other than the liver" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0000598 abnormal liver morphology "malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]
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Allelic Composition: Onecut1tm1Flem/Onecut1tm1Flem,Onecut2tm1Flem/Onecut2tm1Flem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Swiss

 MP:0000599 enlarged liver "larger than average size of the liver" [J:65146]
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Allelic Composition: Onecut1tm1Flem/Onecut1tm1Flem,Onecut2tm1Flem/Onecut2tm1Flem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Swiss

 MP:0000609 abnormal liver physiology "aberrant function of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0000623 reduced salivation "decrease flow, secretion, or amount of saliva" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Nt5etm1Lft/Nt5etm1Lft
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0001059 optic nerve atrophy "wasting of the second cranial nerve which is responsible for conveying visual information from the retina to the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001261 obese "excessively fat; an increase in fat in the subcutaneous connective tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Pcyt1btm1Mkar/Pcyt1b+
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Pcyt1btm1Mkar/Pcyt1b+
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 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: Onecut1tm1Flem/Onecut1tm1Flem,Onecut2tm1Flem/Onecut2tm1Flem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Swiss

 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001326 retinal degeneration "pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
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Allelic Composition: Pcyt1btm1Mkar/Pcyt1b+
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0001363 increased anxiety-related response "when compared to controls, subjects exhibit more responses thought to be indicative of anxiety in behavioral tests" [cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator, J:49752, J:53060]
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Allelic Composition: Onecut1tm1Flem/Onecut1tm1Flem,Onecut2tm1Flem/Onecut2tm1Flem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Swiss

 MP:0001433 polyphagia "eating to excess" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pcyt1btm1Mkar/Pcyt1b+
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0001526 abnormal placing response "altered ability to stretch and lift the forelimbs and head to grab a close edge " [J:66943, MGI:cml]
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Allelic Composition: Bbs4tm1Vcs/Bbs4tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001556 increased circulating HDL cholesterol level "higher than average level of high density lipoprotein in the blood; this molecule transports cholesterol to the liver for excretion in bile" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:47439]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: Pcyt1btm1Mkar/Pcyt1b+
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0001984 abnormal olfaction "change in the ability to smell" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Bbs4tm1Vcs/Bbs4tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002079 increased circulating insulin level "greater than normal levels of insulin in blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 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: Onecut1tm1Flem/Onecut1tm1Flem,Onecut2tm1Flem/Onecut2tm1Flem
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Swiss

 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: Nt5etm1Lft/Nt5etm1Lft
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0002461 increased circulating immunoglobulin concentration "greater than normal immunoglobulin level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0002628 fatty liver "an accumulation of fat deposits in the liver " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0002792 abnormal retinal vascularization "malformation or disorganization of the blood vessels supplying the retina" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0002797 thigmotaxis "preference of a mouse for the side walls of a cage or box; usually an indicator of increased anxiety response" [J:56814]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0002864 abnormal ocular fundus morphology "malformation of the posterior concave interior of the eye, consisting of the retina, the choroid, the posterior segment of the sclera, the optic disk, and blood vessels, visible by an ophthalmoscope" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0002944 increased lactate dehydrogenase level "greater than the normal concentration of this enzyme, which catalyzes the interconversion of lactate and pyruvate" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:87714]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0003212 susceptibility to age related obesity "increased probability of excessive weight gain that is progressive with age" [RGD:Rat Genome Database submission]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0003537 hydrometrocolops "collection of fluid in the vagina; often due to a congenital obstruction" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0003675 kidney cysts "abnormal membranous sacs in any portion of the pair of organs responsible for urine secretion" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0003728 abnormal photoreceptor layer "malformation/anomalous structure of the photoreceptor layer" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0003729 abnormal photoreceptor outer segments "malformation/anomalous structure of the photoreceptor layer which contains stacks of membranous discs that are rich in the visual pigment rhodopsin " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0003730 abnormal photoreceptor inner segments "malformation/anomalous structure of the photoreceptor layer which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0003863 decreased aggression towards mice "when compared to controls, subjects exhibit less than normal level of domineering, assaultive posture and/or hostile physical action towards other mice" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0003949 abnormal circulating lipid level "anomalous concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the blood" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0004022 abnormal cone electrophysiology "anomaly in the function of light adapted vision mediated by the cones" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0004491 abnormal orientation of outer hair cell stereociliary bundles "misorientation or rotation of outer hair cell (OHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium " [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0005145 increased circulating VLDL cholesterol level "greater than average concentration in the blood of very low density lipoprotein, which normally transports triglycerides from the intestine and liver to muscle and adipose tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0005178 increased total circulating cholesterol level "greater 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]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0005195 abnormal posterior eye segment morphology "anomalous structure of any of the parts of the eye that lie in back of, or dorsal to, the lens (but not inclusive) " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0005201 abnormal retinal pigment epithelium morphology "anomaly in the epithelial layer of the retina composed of cells containing pigment granules " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 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: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0005344 increased circulating bilirubin level "greater than the normal concentration in the blood of this yellow heme breakdown product" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85204]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0005418 abnormal circulating hormone level "anomalous blood concentration of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organs; originally applied to substances secreted by various endocrine glands and transported in the bloodstream to the target organs, it is sometimes extended to include substances that are not produced by the endocrine glands but that have similar effects" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0005498 hyporesponsive to tactile stimuli "reduced reflex action normally induced by touch or pain" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Bbs4tm1Vcs/Bbs4tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005551 abnormal eye electrophysiology "abnormal function of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)" [NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0005559 increased circulating glucose level "greater than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, RGD:Rat Genome Database submission]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0005565 increased blood urea nitrogen level "high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0005633 increased circulating sodium level "greater than the normal concentration in the blood of this metallic element, the most plentiful extracellular ion in the body and the principal determinant of extracellular fluid volume" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0005656 decreased aggression "when compared to controls, subjects exhibit less than the normal level of domineering, assaultive posture and/or hostile physical action" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator]
Show

Allelic Composition: Bbs4tm1Vcs/Bbs4tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005669 increased circulating leptin level "greater than the normal blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, J:34751]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0006007 abnormal basal ganglion morphology "malformation or absence of any of a group of nuclei associated with the ability to carry out willed movements, including the caudate, putamen, nucleus accumbens, globus pallidus, substantia nigra, and subthalamic nucleus" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Bbs4tm1Vcs/Bbs4tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0006092 abnormal olfactory neuron morphology "malformation in the neurons that are activated by specific odorants" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92950]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0006254 thin cerebral cortex "decreased depth of the mantle covering the surface of the cerebral hemispheres" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:84683]
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Allelic Composition: Bbs4tm1Vcs/Bbs4tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0006357 abnormal circulating mineral level "anomalous concentration in the blood of any naturally occurring, homogeneous inorganic solid substance having a definite chemical composition and highly ordered atomic arrangement that is required for growth and survival" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0008283 small hippocampus "reduced size of the deep lying structure of the cerebrum involved with memory storage and spatial navigation" [ISBN:0-12-402035-6 "Kaufman, MH The Atlas of Mouse Development", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bbs4tm1Vcs/Bbs4tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008535 enlarged lateral ventricles "increased size of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MESH:A08.186.211.276.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bbs4tm1Vcs/Bbs4tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008536 enlarged third ventricle "increased size of the 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" [MESH:A08.186.211.276.840, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bbs4tm1Vcs/Bbs4tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008545 absent sperm flagella "mature spermatozoa lack a flagella" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcyt1btm1Mkar/Pcyt1b+
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0009642 abnormal blood homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of various functions or chemical or protein composition of the blood" [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: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 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: Pcyt1btm1Mkar/Pcyt1b+
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0010024 increased total body fat amount "greater than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcyt1btm1Mkar/Pcyt1b+
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
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Allelic Composition: Bbs4tm1Vcs/Bbs4tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0010092 increased circulating magnesium level "an elevation in the blood concentration of magnesium" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0011066 abnormal renal tubule epithelial cell primary cilium morphology "any structural anomaly of the single non-motile cilium of a renal tubule epithelial cell that projects into the luminal space of the tubules where it is thought to act as a flow sensor" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:17995581]
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Allelic Composition: Bbs4tm1Vcs/Bbs4tm1Vcs
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0011090 partial perinatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 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: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0011110 partial preweaning lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Pcyt1btm1Mkar/Pcyt1b+
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Bbs4tm1b(EUCOMM)Hmgu/Bbs4tm1b(EUCOMM)Hmgu
Genetic Background: B6N(Cg)-Bbs4tm1b(EUCOMM)Hmgu/J

 MP:0011275 abnormal behavioral response to light "unexpected change in the activity of an organism (in terms of movement, outward responses) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light" [GO:0009416, MGI:llw2]
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Allelic Composition: Ahrrtm1b(KOMP)Wtsi/Ahrrtm1b(KOMP)Wtsi
Genetic Background: B6N(Cg)-Ahrrtm1b(KOMP)Wtsi/J

 MP:0011281 abnormal olfactory epithelium cilium morphology "any structural anomaly of the cilia of the epithelial cells that line the interior of the nose" [MGI:smb]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0011682 renal glomerulus cysts "abnormal membranous sacs in any portion of the renal glomerulus" [MGI:csmith]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

 MP:0020411 increased abdominal adipose tissue amount "increase in amount of adipose tissue associated with internal organs" [MGI:anna]
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Allelic Composition: Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic Background: involves: 129S7/SvEvBrd

  


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






 

1 s.

 
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