ENSMUSG00000029491


Mus musculus

Features
Gene ID: ENSMUSG00000029491
  
Biological name :Pde6b
  
Synonyms : P23440 / Pde6b / phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide
  
Possible biological names infered from orthology : P35913 / phosphodiesterase 6B
  
Species: Mus musculus
  
Chr. number: 5
Strand: 1
Band: F
Gene start: 108388391
Gene end: 108432397
  
Corresponding Affymetrix probe sets: 10523979 (MoGene1.0st)   1419740_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000031456
NCBI entrez gene - 18587     See in Manteia.
MGI - MGI:97525
RefSeq - NM_008806
RefSeq Peptide - NP_032832
swissprot - P23440
Ensembl - ENSMUSG00000029491
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pde6bENSDARG00000011671Danio rerio
 PDE6BENSGALG00000015373Gallus gallus
 PDE6BENSG00000133256Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Pde6a / phosphodiesterase 6A / P16499*ENSMUSG0000002457574
Pde6c / Q91ZQ1 / Cone cGMP-specific 3,5-cyclic phosphodiesterase subunit alpha / P51160* / phosphodiesterase 6C*ENSMUSG0000002499264
P0C1Q2 / Pde11a / Dual 3,5-cyclic-AMP and -GMP phosphodiesterase 11A / Q9HCR9* / phosphodiesterase 11A*ENSMUSG0000007527031
Pde5a / Q8CG03 / cGMP-specific 3,5-cyclic phosphodiesterase / O76074* / phosphodiesterase 5A*ENSMUSG0000005396530
Gm45837 / cGMP-dependent 3,5-cyclic phosphodiesterase isoform PDE2A1 / PDE2A* / O00408* / phosphodiesterase 2A*ENSMUSG0000003065326
Pde2a / phosphodiesterase 2A, cGMP-stimulated / O00408* / phosphodiesterase 2A*ENSMUSG0000011019526
Pde10a / Q8CA95 / phosphodiesterase 10A / Q9Y233*ENSMUSG0000002386823
Pde3a / Q9Z0X4 / phosphodiesterase 3A, cGMP inhibited / Q14432* / phosphodiesterase 3A*ENSMUSG0000004174118
Pde9a / O70628 / High affinity cGMP-specific 3,5-cyclic phosphodiesterase 9A / O76083* / phosphodiesterase 9A*ENSMUSG0000004111916
Pde3b / phosphodiesterase 3B / Q13370*ENSMUSG0000003067116


Protein motifs (from Interpro)
Interpro ID Name
 IPR002073  3"5"-cyclic nucleotide phosphodiesterase, catalytic domain
 IPR003018  GAF domain
 IPR003607  HD/PDEase domain
 IPR023088  3"5"-cyclic nucleotide phosphodiesterase
 IPR023174  3"5"-cyclic nucleotide phosphodiesterase, conserved site
 IPR029016  GAF-like domain superfamily
 IPR036971  3"5"-cyclic nucleotide phosphodiesterase, catalytic domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0009583 detection of light stimulus IMP
 biological_processGO:0046037 GMP metabolic process IEA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0051480 regulation of cytosolic calcium ion concentration IEA
 biological_processGO:0060041 retina development in camera-type eye IMP
 cellular_componentGO:0001750 photoreceptor outer segment IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0004114 3",5"-cyclic-nucleotide phosphodiesterase activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008081 phosphoric diester hydrolase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0047555 3",5"-cyclic-GMP phosphodiesterase activity IEA


Pathways (from Reactome)
Pathway description
Activation of the phototransduction cascade
Inactivation, recovery and regulation of the phototransduction cascade
Ca2+ pathway


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
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Allelic Composition: Padi6tm1b(KOMP)Wtsi/Padi6tm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Padi6tm1b(KOMP)Wtsi/Ucd

 MP:0001004 abnormal photoreceptor morphology "structural or developmental anomaly of the receptors sensitive to light " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Pde6brd1/Pde6brd1,Tg(OPN1LW-DT)1Mame/?
Genetic Background: involves: C3H/He * C57BL/6 * C57BL/6J

 MP:0001005 abnormal rod morphology "structural or developmental anomaly of the photoreceptors that contain rhodopsin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Pde6brd10/Pde6brd10
Genetic Background: B6.CXB1-Pde6brd10/J

 MP:0001006 abnormal cone morphology "structural or developmental anomaly of the retinal receptors that give rise to color vision" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Gt(ROSA)26Sortm3(CAG-EYFP)Hze/Gt(ROSA)26Sor+,Stat5atm2Mam Stat5btm1Mam/Del(11Stat5a-Stat5b)1Mam,Tg(Mx1-cre)1Cgn/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr * CBA

 MP:0001286 abnormal eye development "malformation or arrest of differentiation of the visual organ" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:49840]
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Allelic Composition: Casp3tm1Flv/Casp3tm1Flv,Pde6brd1/Pde6brd1
Genetic Background: involves: 129S1 * C3H/FeJ * C57BL/6J

 MP:0001304 cataracts "complete or partial opacity of the lens" [J:65031]
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Allelic Composition: A/?,Tyrc/Tyrem6Ove
Genetic Background: involves: C57BL/6 * FVB

Allelic Composition: Pde6brd1/Pde6brd1,Prkcqrpea1/Prkcqrpea1
Genetic Background: B6.ABJ-Prkcqrpea1 Pde6brd1/Boc

 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: Bmp8btm1Blh/Bmp8btm1Blh
Genetic Background: either: B6.129-Bmp8btm1Blh or (involves: 129 * Black Swiss * C57BL/6)

Allelic Composition: Pde6batrd1/Pde6brd1
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6batrd2/Pde6batrd2
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6batrd2/Pde6brd1
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6brd1/Pde6brd1
Genetic Background: either: C.Cg-Pde6brd1 or C3.Cg-Pde6brd1

Allelic Composition: Pde6brd1/Pde6brd1,Tg(OPN1LW-DT)1Mame/?
Genetic Background: involves: C3H/He * C57BL/6 * C57BL/6J

 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: Bmp8btm1Blh/Bmp8btm1Blh
Genetic Background: either: B6.129-Bmp8btm1Blh or (involves: 129 * Black Swiss * C57BL/6)

Allelic Composition: Pde6brd1-2J/Pde6brd1-2J
Genetic Background: C57BL/6J-Pde6brd1-2J/J

Allelic Composition: Pde6batrd1/Pde6brd1
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6batrd1/Pde6batrd1
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6batrd2/Pde6batrd2
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6batrd2/Pde6brd1
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6batrd3/Pde6brd1
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6batrd3/Pde6batrd3
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6brd1-1H/Pde6brd1
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6brd1-2H/Pde6brd1
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6brd1-3H/Pde6brd1
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6brd1-4H/Pde6brd1
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6brd1-1H/Pde6brd1-1H
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6brd1-2H/Pde6brd1-2H
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6brd1-3H/Pde6brd1-3H
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6brd1-4H/Pde6brd1-4H
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6brd1/Pde6brd1,Rhotm2(RHO/GFP)Jhw/Rho+
Genetic Background: either: (involves: 129S7/SvEvBrd * C57BL/6J * FVB) or (involves: 129S7/SvEvBrd * C57BL/6-Tyrc * FVB)

Allelic Composition: Pde6brd10/Pde6brd10
Genetic Background: B6.CXB1-Pde6brd10/J

Allelic Composition: Pde6brd1/Pde6brd1,Tg(OPN1LW-DT)1Mame/?
Genetic Background: involves: C3H/He * C57BL/6 * C57BL/6J

Allelic Composition: Pde6brd1/Pde6brd1
Genetic Background: C3H/HeJ

Allelic Composition: Pde6brd1/Pde6brgsc1754
Genetic Background: involves: C3H * C57BL/6JJcl

Allelic Composition: Pde6brd1/Pde6brd1
Genetic Background: involves: C3H

 MP:0001327 reduced retinal photoreceptor cell number "fewer than the expected number of rods and/or cones" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Fbn2fp-2J/Fbn2fp-2J
Genetic Background: involves: C57BL/6J * C.B10-H2b/LiMcdJ

Allelic Composition: Pde6batrd1/Pde6btm1Eye,Gt(ROSA)26Sortm1(cre/ERT2)Tyj/Gt(ROSA)26Sor+
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * BALB/cAnN * C3H/HeN * C57BL/6J

Allelic Composition: Pde6batrd1/Pde6btm1Eye
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * BALB/cAnN * C3H/HeN * C57BL/6J

Allelic Composition: Pde6brd1/Pde6brd1,Prkcqrpea1/Prkcqrpea1
Genetic Background: ABJ/LeJ-Prkcqrpea1/Boc

Allelic Composition: Pde6brd1/Pde6brd1,Prkcqrpea1/Prkcqrpea1
Genetic Background: B6.ABJ-Prkcqrpea1 Pde6brd1/Boc

 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]
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Allelic Composition: Bmp8btm1Blh/Bmp8btm1Blh
Genetic Background: either: B6.129-Bmp8btm1Blh or (involves: 129 * Black Swiss * C57BL/6)

 MP:0001648 abnormal apoptosis "excessive or absent cell death in a particular tissue or cell type" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:25248]
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Allelic Composition: Casp3tm1Flv/Casp3tm1Flv,Pde6brd1/Pde6brd1
Genetic Background: involves: 129S1 * C3H/FeJ * C57BL/6J

 MP:0002001 blindness "loss of the sense of sight" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Pde6batrd1/Pde6batrd1
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6batrd2/Pde6batrd2
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6brd1/Pde6brd1
Genetic Background: involves: C3H

 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: Pde6brd1-2J/Pde6brd1-2J
Genetic Background: C57BL/6J-Pde6brd1-2J/J

Allelic Composition: Pde6brd10/Pde6brd10
Genetic Background: B6.CXB1-Pde6brd10/J

 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: Pde6batrd2/Pde6batrd2
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6batrd1/Pde6btm1Eye,Gt(ROSA)26Sortm1(cre/ERT2)Tyj/Gt(ROSA)26Sor+
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * BALB/cAnN * C3H/HeN * C57BL/6J

Allelic Composition: Pde6batrd1/Pde6btm1Eye
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * BALB/cAnN * C3H/HeN * C57BL/6J

Allelic Composition: Pde6brd1/Pde6brd1
Genetic Background: involves: C3H

Allelic Composition: Pde6brd1/Pde6brd1,Prkcqrpea1/Prkcqrpea1
Genetic Background: ABJ/LeJ-Prkcqrpea1/Boc

Allelic Composition: Pde6brd1/Pde6brd1,Prkcqrpea1/Prkcqrpea1
Genetic Background: B6.ABJ-Prkcqrpea1 Pde6brd1/Boc

 MP:0003099 retinal detachment "detachment of the retina from the underlying inner wall of the eye, often from tension of the vitreous; may occur with aging or as a result of trauma" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, J:83544]
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Allelic Composition: Pde6brd1/Pde6brd1,Prkcqrpea1/Prkcqrpea1
Genetic Background: B6.ABJ-Prkcqrpea1 Pde6brd1/Boc

 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: Pde6brd1/Pde6brd1,Pde6gtm1Goff/Pde6gtm1Goff
Genetic Background: either: (involves: 129S/SvEv * C57BL/6 * MF1 * Swiss Webster) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * MF1 * Swiss Webster)

 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: Opn4tm1Skay/Opn4tm1Skay
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0003731 abnormal outer nuclear layer morphology "malformation/anomalous structure of the retinal layer that contains the nuclei and cell bodies of rods and cones" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Cry1tm1Asn/Cry1tm1Asn,Cry2tm1Asn/Cry2tm1Asn,Pde6brd1/Pde6brd1
Genetic Background: involves: 129P2/OlaHsd * C3H/HeJ * C57BL/6

Allelic Composition: Pde6brd1/Pde6brd1,Tg(OPN1LW-DT)1Mame/?
Genetic Background: involves: C3H/He * C57BL/6 * C57BL/6J

Allelic Composition: Pde6brd1/Pde6brd1
Genetic Background: C3H/HeJ

 MP:0003733 abnormal inner nuclear layer morphology "malformation/anomalous structure of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Opn4tm1Skay/Opn4tm1Skay
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0004021 abnormal rod electrophysiology "anomaly in the function of dark adapted vision mediated by the rods" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Pde6batrd1/Pde6btm1Eye
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * BALB/cAnN * C3H/HeN * C57BL/6J

 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: Fbn2fp-2J/Fbn2fp-2J
Genetic Background: involves: C57BL/6J * C.B10-H2b/LiMcdJ

Allelic Composition: Pde6batrd1/Pde6btm1Eye
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * BALB/cAnN * C3H/HeN * C57BL/6J

 MP:0005253 abnormal eye physiology "anomalous function and/or activity of the ocular system or any of its parts" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Fbn2fp-2J/Fbn2fp-2J
Genetic Background: involves: C57BL/6J * C.B10-H2b/LiMcdJ

Allelic Composition: Opn4tm1Skay/Opn4tm1Skay,Pde6brd1/Pde6brd1
Genetic Background: B6.Cg-Pde6brd1 Opn4tm1Skay

 MP:0005258 ocular hypertension "abnormal elevation of the intraocular pressure " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Pde6brd1/Pde6brd1,Prkcqrpea1/Prkcqrpea1
Genetic Background: ABJ/LeJ-Prkcqrpea1/Boc

Allelic Composition: Pde6brd1/Pde6brd1,Prkcqrpea1/Prkcqrpea1
Genetic Background: B6.ABJ-Prkcqrpea1 Pde6brd1/Boc

 MP:0005547 abnormal Muller cell morphology "anomalous structure of the elongated neuroglial cells that traverse all the layers of the retina and that act as supporting elements" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Pde6brd1/Pde6brd1
Genetic Background: either: C.Cg-Pde6brd1 or C3.Cg-Pde6brd1

Allelic Composition: Pde6brd1/Pde6brd1,Prph2Rd2/Prph2Rd2
Genetic Background: either: C.Cg-Pde6brd1 Prph2Rd2 or C3.Cg-Pde6brd1 Prph2Rd2

 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: Fbn2fp-2J/Fbn2fp-2J
Genetic Background: involves: C57BL/6J * C.B10-H2b/LiMcdJ

Allelic Composition: Pde6brd1-2J/Pde6brd1-2J
Genetic Background: C57BL/6J-Pde6brd1-2J/J

Allelic Composition: Pde6brd10/Pde6brd10
Genetic Background: B6.CXB1-Pde6brd10/J

Allelic Composition: Pde6brd1/Pde6brd1,Pde6gtm1Goff/Pde6gtm1Goff
Genetic Background: either: (involves: 129S/SvEv * C57BL/6 * MF1 * Swiss Webster) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * MF1 * Swiss Webster)

Allelic Composition: Pde6batrd1/Pde6btm1Eye
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * BALB/cAnN * C3H/HeN * C57BL/6J

 MP:0006149 blurred vision "loss of visiual acuity or ability to distinguish small details" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Pde6batrd1/Pde6brd1
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6batrd1/Pde6batrd1
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6batrd2/Pde6batrd2
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6batrd2/Pde6brd1
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6batrd3/Pde6batrd3
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6brd1/Pde6brd1
Genetic Background: involves: C3H

 MP:0006243 abnormal pupil dilation reaction to light "the pupil fails to constrict fully when exposed to bright light" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: KitW-e/KitW-e
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: Cry1tm1Asn/Cry1tm1Asn,Cry2tm1Asn/Cry2tm1Asn,Pde6brd1/Pde6brd1
Genetic Background: involves: 129P2/OlaHsd * C3H/HeJ * C57BL/6

Allelic Composition: Cry1tm1Asn/Cry1tm1Asn,Pde6brd1/Pde6brd1
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Cry2tm1Asn/Cry2tm1Asn,Pde6brd1/Pde6brd1
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Opn4tm1Skay/Opn4tm1Skay,Pde6brd1/Pde6brd1
Genetic Background: involves: 129S1/SvImJ * C57BL/6

 MP:0006298 abnormal platelet activation "anomaly in the series of progressive, overlapping events triggered by exposure of platelets to signals from subendothelial tissue, including shape change, adhesiveness, aggregation, and release reactions; when carried through to completion, these events lead to the formation of a stable hemostatic plug" [GO:0030168, MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Dysfim/Dysfim,Large1myd/Large1myd
Genetic Background: involves: C57BL/6 * SJL/J

 MP:0006309 decreased retinal ganglion cell number "reduced number of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Pde6brd1/Pde6brd1,Prkcqrpea1/Prkcqrpea1
Genetic Background: ABJ/LeJ-Prkcqrpea1/Boc

Allelic Composition: Pde6brd1/Pde6brd1,Prkcqrpea1/Prkcqrpea1
Genetic Background: B6.ABJ-Prkcqrpea1 Pde6brd1/Boc

 MP:0008259 abnormal optic disc morphology "any structural anomaly of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Pde6batrd1/Pde6batrd1
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6batrd2/Pde6batrd2
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6batrd3/Pde6batrd3
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6brd1/Pde6brd1
Genetic Background: involves: C3H

 MP:0008446 decreased retinal cone cell number "reduced number of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment" [MESH:A08.663.650.650.670.100, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cry1tm1Asn/Cry1tm1Asn,Cry2tm1Asn/Cry2tm1Asn,Pde6brd1/Pde6brd1
Genetic Background: involves: 129P2/OlaHsd * C3H/HeJ * C57BL/6

 MP:0008450 retinal photoreceptor degeneration "a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina" [MESH:A08.663.650.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fbn2fp-2J/Fbn2fp-2J
Genetic Background: involves: C57BL/6J * C.B10-H2b/LiMcdJ

Allelic Composition: Pde6brd1/Pde6brd1,Prph2Rd2/Prph2Rd2
Genetic Background: either: C.Cg-Pde6brd1 Prph2Rd2 or C3.Cg-Pde6brd1 Prph2Rd2

Allelic Composition: Pde6batrd1/Pde6btm1Eye,Gt(ROSA)26Sortm1(cre/ERT2)Tyj/Gt(ROSA)26Sor+
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * BALB/cAnN * C3H/HeN * C57BL/6J

Allelic Composition: Pde6batrd1/Pde6btm1Eye
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * BALB/cAnN * C3H/HeN * C57BL/6J

 MP:0008451 retinal rod cell degeneration "a retrogressive impairment of function or destruction of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane" [MESH:A08.663.650.650.670.650]
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Allelic Composition: Pde6brd10/Pde6brd10
Genetic Background: B6.CXB1-Pde6brd10/J

 MP:0008453 decreased retinal rod cell number "reduced number of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane" [MESH:A08.663.650.650.670.650]
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Allelic Composition: Casp3tm1Flv/Casp3tm1Flv,Pde6brd1/Pde6brd1
Genetic Background: involves: 129S1 * C3H/FeJ * C57BL/6J

 MP:0008454 absent retinal rod cells "absence of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane" [MESH:A08.663.650.650.670.650]
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Allelic Composition: KitW-e/KitW-e
Genetic Background: involves: 101/H * C3H/HeH

Allelic Composition: Cry1tm1Asn/Cry1tm1Asn,Cry2tm1Asn/Cry2tm1Asn,Pde6brd1/Pde6brd1
Genetic Background: involves: 129P2/OlaHsd * C3H/HeJ * C57BL/6

 MP:0008511 thin retinal inner nuclear layer "reduced thickness of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Pde6brd1/Pde6brd1,Tg(OPN1LW-DT)1Mame/?
Genetic Background: involves: C3H/He * C57BL/6 * C57BL/6J

 MP:0008515 thin retinal outer nuclear layer "reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Fbn2fp-2J/Fbn2fp-2J
Genetic Background: involves: C57BL/6J * C.B10-H2b/LiMcdJ

Allelic Composition: Pde6batrd1/Pde6batrd1
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6batrd2/Pde6batrd2
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6batrd2/Pde6brd1
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6batrd3/Pde6batrd3
Genetic Background: involves: BALB/cAnN * C3H/HeN

Allelic Composition: Pde6brd1/Pde6brd1
Genetic Background: either: C.Cg-Pde6brd1 or C3.Cg-Pde6brd1

Allelic Composition: Pde6brd1/Pde6brd1
Genetic Background: involves: C3H

 MP:0008517 thick retinal outer nuclear layer "increased thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Casp3tm1Flv/Casp3tm1Flv,Pde6brd1/Pde6brd1
Genetic Background: involves: 129S1 * C3H/FeJ * C57BL/6J

 MP:0008518 retinal outer nuclear layer degeneration "a retrogressive impairment or destruction of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Pde6brd10/Pde6brd10
Genetic Background: B6.CXB1-Pde6brd10/J

Allelic Composition: Pde6brd1/Pde6brd1
Genetic Background: B.C3-Pde6brd1

Allelic Composition: Pde6brd1/Pde6brd1,Prph2Rd2/Prph2Rd2
Genetic Background: involves: C3Hf/HeA * C57BL/LiA * O20/A

 MP:0008519 thin retinal outer plexiform layer "reduced thickness of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Fbn2fp-2J/Fbn2fp-2J
Genetic Background: involves: C57BL/6J * C.B10-H2b/LiMcdJ

 MP:0008520 disorganized retinal outer plexiform layer "a derangement of the normal pattern of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Fbn2fp-2J/Fbn2fp-2J
Genetic Background: involves: C57BL/6J * C.B10-H2b/LiMcdJ

 MP:0008585 absent photoreceptor outer segment "absence of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cry1tm1Asn/Cry1tm1Asn,Cry2tm1Asn/Cry2tm1Asn,Pde6brd1/Pde6brd1
Genetic Background: involves: 129P2/OlaHsd * C3H/HeJ * C57BL/6

Allelic Composition: Pde6brd1/Pde6brd1,Prph2Rd2/Prph2Rd2
Genetic Background: either: C.Cg-Pde6brd1 Prph2Rd2 or C3.Cg-Pde6brd1 Prph2Rd2

Allelic Composition: Pde6brd1/Pde6brd1
Genetic Background: C3H/HeJ

 MP:0009274 buphthalmos "abnormal enlargement of the eye that is usually congenital and attended by symptoms of glaucoma" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pde6brd1/Pde6brd1,Prkcqrpea1/Prkcqrpea1
Genetic Background: ABJ/LeJ-Prkcqrpea1/Boc

Allelic Composition: Pde6brd1/Pde6brd1,Prkcqrpea1/Prkcqrpea1
Genetic Background: B6.ABJ-Prkcqrpea1 Pde6brd1/Boc

 MP:0009549 impaired platelet aggregation "decrease in the ability of one platelet to one or more other platelets via adhesion molecules" [GO:0070527]
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Allelic Composition: Dysfim/Dysfim,Large1myd/Large1myd
Genetic Background: involves: C57BL/6 * SJL/J

 MP:0010097 abnormal retinal blood vessel morphology "any structural anomaly of the blood vessels supplying the retina" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pde6batrd1/Pde6btm1Eye,Gt(ROSA)26Sortm1(cre/ERT2)Tyj/Gt(ROSA)26Sor+
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * BALB/cAnN * C3H/HeN * C57BL/6J

Allelic Composition: Pde6batrd1/Pde6btm1Eye
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * BALB/cAnN * C3H/HeN * C57BL/6J

 MP:0011279 decreased ear pigmentation "visually detectable dilution of pigment present in the outer ear" [MGI:csmith]
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Allelic Composition: Opn4tm1Skay/Opn4tm1Skay
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

 MP:0011831 abnormal visual contrast sensitivity "any abnormality in the ability to distinguish between increments of light versus dark" [MGI:smb]
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Allelic Composition: LexmRetro/Lexm+
Genetic Background: involves: C57BL/6J

 MP:0011965 decreased total retina thickness "decreased width of the retina through the center plane" [MGI:csmith]
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Allelic Composition: Pde6brd1/Pde6brd1
Genetic Background: either: C.Cg-Pde6brd1 or C3.Cg-Pde6brd1

 MP:0020442 serous retinal detachment "a retinal detachment resulting from accumulation of fluid between the retina and retinal pigment epithelium in the absence of a retinal tear" [doi: 10.1167/iovs.15-17495]
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Allelic Composition: Pde6brd1/Pde6brd1,Prkcqrpea1/Prkcqrpea1
Genetic Background: B6.ABJ-Prkcqrpea1 Pde6brd1/Boc

 MP:0020473 abnormal circadian behavior phase "anomaly in the phase relationship between a temporal synchronizing event (such as light cycle) and a behavioral phase reference point of an animal (such as activity onset)" [MGI:smb]
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Allelic Composition: Cry1tm1Asn/Cry1tm1Asn,Cry2tm1Asn/Cry2tm1Asn,Pde6brd1/Pde6brd1
Genetic Background: involves: 129P2/OlaHsd * C3H/HeJ * C57BL/6

 MP:0020476 abnormal circardian behavior entrainment "anomaly in the synchronization of a circadian behavior to environmental time cues such as light" [GO:0009649]
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Allelic Composition: Opn4tm1Skay/Opn4tm1Skay,Pde6brd1/Pde6brd1
Genetic Background: involves: 129S1/SvImJ * C57BL/6

 MP:0020477 abnormal locomotor circadian rhythm "any anomaly in the rhythm of the locomotor activity of an organism during its 24 hour activity cycle" [GO:0045475]
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Allelic Composition: Cry1tm1Asn/Cry1tm1Asn,Cry2tm1Asn/Cry2tm1Asn,Pde6brd1/Pde6brd1
Genetic Background: involves: 129P2/OlaHsd * C3H/HeJ * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000034837 Gnat1 / P20612 / guanine nucleotide binding protein, alpha transducing 1 / P11488* / G protein subunit alpha transducin 1*  / complex
 ENSMUSG00000024575 Pde6a / phosphodiesterase 6A / P16499*  / complex
 ENSMUSG00000025386 Pde6g / P09174 / phosphodiesterase 6G, cGMP-specific, rod, gamma / P18545* / phosphodiesterase 6G*  / complex
 ENSMUSG00000009108 Gnat2 / P50149 / guanine nucleotide binding protein, alpha transducing 2 / P19087* / G protein subunit alpha transducin 2*  / reaction / complex






 

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