Manteia - Molecule gene

ENSMUSG00000033282

Mus musculus

Features

Gene ID:	ENSMUSG00000033282

Biological name :	Rpgrip1l

Synonyms :	Q8CG73 / Rpgrip1l / Rpgrip1-like

Possible biological names infered from orthology :	Q68CZ1

Species:	Mus musculus

Chr. number:	8
Strand:	-1
Band:	C4
Gene start:	91217030
Gene end:	91313262

Corresponding Affymetrix probe sets:	10580550 (MoGene1.0st)

Cross references:	Ensembl peptide - ENSMUSP00000042702 Ensembl peptide - ENSMUSP00000147763 Ensembl peptide - ENSMUSP00000147300 Ensembl peptide - ENSMUSP00000120818 Ensembl peptide - ENSMUSP00000118230 NCBI entrez gene - 244585 See in Manteia. MGI - MGI:1920563 RefSeq - XM_006530995 RefSeq - XM_006530994 RefSeq - XM_006530991 RefSeq - NM_173431 RefSeq - XM_006530992 RefSeq - XM_006530993 RefSeq Peptide - NP_775607 swissprot - Q8CG73 swissprot - D6RIK9 swissprot - A0A1B0GQY2 swissprot - A0A1B0GS23 swissprot - D3Z0V3 Ensembl - ENSMUSG00000033282

See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
rpgrip1l	ENSDARG00000051754	Danio rerio
	ENSGALG00000003602	Gallus gallus
Q68CZ1	ENSG00000103494	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Q9EPQ2 / Rpgrip1 / retinitis pigmentosa GTPase regulator interacting protein 1 / Q96KN7* / RPGR interacting protein 1*	ENSMUSG00000057132	30

Protein motifs (from Interpro)

Interpro ID	Name
IPR000008	C2 domain
IPR021656	RPGR-interacting protein 1, first C2 domain
IPR031136	Protein fantom (RPGRIP1L)
IPR031139	RPGRIP1 family
IPR035892	C2 domain superfamily

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0001701	in utero embryonic development	IMP
biological_process	GO:0001736	establishment of planar polarity	IEA
biological_process	GO:0001822	kidney development	IMP
biological_process	GO:0001889	liver development	IMP
biological_process	GO:0007163	establishment or maintenance of cell polarity	IMP
biological_process	GO:0007368	determination of left/right symmetry	IMP
biological_process	GO:0007420	brain development	IMP
biological_process	GO:0008589	regulation of smoothened signaling pathway	IMP
biological_process	GO:0021532	neural tube patterning	IMP
biological_process	GO:0021537	telencephalon development	IMP
biological_process	GO:0021549	cerebellum development	IMP
biological_process	GO:0021670	lateral ventricle development	IMP
biological_process	GO:0021772	olfactory bulb development	IMP
biological_process	GO:0022038	corpus callosum development	IMP
biological_process	GO:0032502	developmental process	IEA
biological_process	GO:0035108	limb morphogenesis	IMP
biological_process	GO:0035115	embryonic forelimb morphogenesis	IMP
biological_process	GO:0035116	embryonic hindlimb morphogenesis	IMP
biological_process	GO:0043010	camera-type eye development	IMP
biological_process	GO:0043584	nose development	IMP
biological_process	GO:0045744	negative regulation of G-protein coupled receptor protein signaling pathway	ISS
biological_process	GO:0060039	pericardium development	IMP
biological_process	GO:0060271	cilium assembly	IMP
biological_process	GO:0060322	head development	IMP
biological_process	GO:0090102	cochlea development	IMP
biological_process	GO:1905515	non-motile cilium assembly	IMP
cellular_component	GO:0005654	nucleoplasm	ISO
cellular_component	GO:0005737	cytoplasm	IDA
cellular_component	GO:0005813	centrosome	ISO
cellular_component	GO:0005815	microtubule organizing center	IEA
cellular_component	GO:0005829	cytosol	ISO
cellular_component	GO:0005856	cytoskeleton	IEA
cellular_component	GO:0005879	axonemal microtubule	IEA
cellular_component	GO:0005886	plasma membrane	ISO
cellular_component	GO:0005911	cell-cell junction	ISS
cellular_component	GO:0005923	bicellular tight junction	IEA
cellular_component	GO:0005929	cilium	ISO
cellular_component	GO:0005930	axoneme	ISO
cellular_component	GO:0030054	cell junction	IEA
cellular_component	GO:0032391	photoreceptor connecting cilium	IEA
cellular_component	GO:0035253	ciliary rootlet	IEA
cellular_component	GO:0035869	ciliary transition zone	IEA
cellular_component	GO:0036064	ciliary basal body	IEA
cellular_component	GO:0042995	cell projection	IEA
molecular_function	GO:0005515	protein binding	IPI
molecular_function	GO:0031870	thromboxane A2 receptor binding	ISO

Pathways (from Reactome)

Pathway description

Hedgehog off state

Anchoring of the basal body to the plasma membrane

Hedgehog on state

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000026	abnormal inner ear morphology	"malformation or malfunction of any components of the labyrinth, including the semicircular canals, vestibule and cochlea" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0000079	abnormal basioccipital bone morphology	"malformed basilar process of the occipital bone" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55583]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0000106	abnormal basisphenoid bone morphology	"malformed base of the sphenoid bone" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55583]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0000111	cleft palate	"congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]	Show Allelic Composition: Rad21l^{tm1b(KOMP)Wtsi}/Rad21l^{tm1b(KOMP)Wtsi} Genetic Background: C57BL/6N-Rad21l^{tm1b(KOMP)Wtsi}/J
MP:0000141	abnormal vertebral body morphology	"malformed main portion of the vertebra anterior to the vertebral canal" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55583]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0000150	abnormal rib morphology	"malformed bones forming the bony wall of the chest" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:50311]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l⁺ Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0000284	double outlet right ventricle	"both the aorta and the pulmonary trunk originate from the right ventricle, usually in conjunction with a ventricular septal defect" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:67826]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0000291	enlarged pericardium	"extended fibroserous membrane covering the heart and beginning of the great vessels" [J:29971]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
MP:0000297	abnormal endocardial cushion morphology	"malformation of the mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal; these mounds eventually fuse to form the valves between the right and left atrioventricular orifices" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0000438	abnormal skull morphology	"anomalous structure or development of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
MP:0000455	abnormal maxilla morphology	"malformation of the upper bony framework of the mouth where the superior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0000458	abnormal mandible morphology	"malformation of the lower bony framework of the mouth where the inferior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
MP:0000460	mandible hypoplasia	"arrested growth or atrophy of the lower bony framework of the mouth where the inferior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator, J:54637]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
MP:0000562	polydactyly	"greater than 5 digits on one or more autopods" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0000602	enlarged sinusoidal spaces	"larger than normal sized cavities in the liver " [J:23170]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0000632	abnormal pineal gland morphology	"anomalous structure of the small, flattened body located in the depression between the superior colliculi and which produces melatonin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0000644	dextrocardia	"cardiac apex pointing to the right as opposed to the normal levocardia" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
MP:0000690	absent spleen	"missing organ that functions to filter blood and to store red corpuscles and platelets" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:55583]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0000694	spleen hypoplasia	"small size due to reduced cell number in the spleen" [J:43971]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0000781	reduced size of corpus callosum	"smaller commissural plate interconnecting the cortical hemispheres of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
MP:0000783	abnormal forebrain morphology	"malformed or absent anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0000819	abnormal olfactory bulb morphology	"malformation or absence of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, Principles of Neural Science:ISBN 0-8385-8034-3, J:16461]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0000841	abnormal hindbrain morphology	"malformed caudal region of the brain; includes cerebellum, pons and medulla oblongata" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:45302]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0000851	cerebellum hypoplasia	"reduced cell number in the cerebellum" [MGI:CLS, J:45302]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
MP:0000897	abnormal midbrain	"malformation or malfunction associated with the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions, including eye movement and coordination of auditory and visual reflexes" [J:23882, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0000914	exencephaly	"neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
MP:0000926	absent floor plate	"missing ventral midline thinning of the developing neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:35802]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
MP:0000964	small dorsal root ganglia	"reduced size of the dorsal root ganglia" [J:17123]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0001014	absent superior cervical ganglion	"missing group of neurons that is the largest of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:17792]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0001015	small superior cervical ganglion	"reduced size of the group of neurons that is the largest of the ganglia of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck" [J:23882]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0001062	absent oculomotor nerve	"missing nerve of the extraocular muscles, iris and ciliary body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:19212]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0001075	abnormal accessory nerve morphology	"any malformation or misprojection of the 11th cranial nerve, which normally originates from neurons in the medulla and in the cervical spinal cord" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0001146	abnormal testis morphology	"anomalous structure of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0001293	anophthalmia	"congenital absence of all tissues of the eyes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CML, J:71979]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0001297	microphthalmia	"reduced average size of the eyes" [J:18048]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
MP:0001706	abnormal left-right axis patterning	"anomaly in the formation or development of the body or a specific organ of the body in relation to the left and right sides of the body or organ" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
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]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
MP:0002196	acallosal	"absence of the commissural plate interconnecting the cortical hemispheres of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
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]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0002239	abnormal nasal septum morphology	"any structural anomaly of the structure that separates the two nasal cavities " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0002741	small olfactory bulb	"reduced size of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [J:79871]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
MP:0002929	abnormal bile duct development	"incomplete or aberrant differentiation of the channels that secrete bile from the liver to the gall bladder and intestines" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
MP:0003048	abnormal cervical vertebrae morphology	"malformation of any or all of the seven bony segments of the spine located anterior to the thoracic vertebrae" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l⁺ Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0003056	abnormal hyoid bone	"anomalous structure of the U-shaped bone lying between the mandible and the larynx that supports the tongue muscles" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, hdene:Howard Dene, Mouse Genome Informatics Curator]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0003178	left pulmonary isomerism	"bilaterally symmetric left lung pattern (or altered asymmetric patterning of the lung)" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93051]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0003327	liver cysts	"abnormal membranous sacs in any portion of the liver" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0003333	liver fibrosis	"invasion of fibrous connective tissue into the liver, often resulting from inflammation or injury " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
MP:0003451	absent olfactory bulb	"absence of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0003584	bifid ureter	"cleft of the ureter into two parts or branches" [ncbi:Matthew Mailman, NCBI request]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0003686	abnormal eye muscle morphology	"malformation of the muscles of the eye" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0003755	abnormal palate	"anomaly in the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate) " [ncbi:Matthew Mailman, NCBI request]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0003888	liver hemorrhage	"bleeding within the liver" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0004110	transposition of great arteries	"cardiovascular malformation in which the aorta arises from the right ventricle while the pulmonary artery arises from the left ventricle" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0004133	heterotaxia	"abnormal arrangement of organs or parts of the body in relation to each other" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0004158	right aortic arch	"the aortic arch lies to the right of the trachea and esophagus; results from persistance of the entire right dorsal arch and involution of a segment of the left arch" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0004181	abnormal carotid artery morphology	"malformation of any of the four arteries (two on each side of the neck; right and left internal carotid arteries, and right and left external carotid arteries) that deliver oxygen-rich blood from the heart to the head and brain" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0004268	abnormal optic stalk morphology	"any structural anomaly of the narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain" [ISBN:0-914294-08-3 "Gray s Anatomy"]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0004269	abnormal optic cup morphology	"any structural anomaly of double walled stuctured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0004574	broad limb buds	"increased anterior-posterior width of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs" [MESH:National Library of Medicine_Medical Subject Headings]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
MP:0004599	abnormal vertebral arch morphology	"any structural anomaly of the dorsal part of a vertebra, consisting of a pair of pedicles, a pair of laminae, and seven processes (four articular processes, two transverse processes, and one spinous process)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0004613	fusion of vertebral arches	"improper union of the dorsal part of adjacent vertebra" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0004668	absent vertebral body	"absence of the main cylindrical portion of the vertebra ventral to the vertebral canal" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0004756	abnormal proximal convoluted tubule morphology	"any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomeurlar capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule is reabsorbed into the peritubular capillaries, including approximately two-thirds of the filtered salt and water and all filtered organic solutes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
MP:0004950	abnormal brain vasculature	"any structural anomaly of the blood vessel network of the brain" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0005157	holoprosencephaly	"presence of a single forebrain hemisphere or lobe; often accompanied by a deficit in median facial development" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83058]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0005170	cleft lip	"defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0005274	abnormal viscerocranium morphology	"anomalous structure or formation of the part of the skull that comprises the facial bones " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
MP:0005358	abnormal incisor morphology	"structural defect of the long pointed teeth; most anterior and prominent in the jaw" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85574]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0005650	abnormal limb bud morphology	"aberrant structure or development of any of the swellings on the trunk of the embryo that become limbs" [hdene:Howard Dene , Mouse Genome Informatics Curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:61460]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
MP:0006065	abnormal heart position	"the heart is displaced from the normal left-sided position and/or orientation" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0008129	absent brain internal capsule	"absence of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0008320	absent adenohypophysis	"absence of the anterior part of the pituitary that secretes a variety of hormones" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0008461	left atrial isomerism	"anomaly in the asymmetry of the cardiac atria such that atria on both the left and right side have the morphology normally seen on the left side of the body" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0008923	thoracoschisis	"congenital fissure of the chest wall" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0009526	absent sublingual gland	"absence of the small mucin-producing salivary glands in the floor of the mouth beneath the tongue, anterior to the submandibular gland" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0009570	abnormal right lung morphology	"any structural anomaly of the organ of respiration located on the right side of the body" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0009743	preaxial polydactyly	"duplication of all or part of the first ray on one or more of the autopods" [PMID:19125433]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
MP:0009771	absent optic chiasm	"absence of the flattened quadrangular body that is the point of crossing of the fibers of the optic nerves" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0009907	decreased tongue size	"reduced size of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
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"]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l⁺ Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0010403	atrial septal defect	"abnormal communications between the two upper chambers of the heart, including such defects in any or all of the ostium primum, ostium secundum, sinus venosus, and coronary sinus regions" [MESH:C14.240.400.560.375]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0010406	absent atrial septum	"absence of the thin membranous structure between the two heart atria" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0010418	perimembraneous ventricular septal defect	"abnormal communications between the two lower chambers of the heart, occurring in the membranous septum with defects in the adjacent muscular portion of the septum; it is generally located in the LV outflow tract just below the aortic valve, associated with pouches or aneurysms of the septal leaflet of the tricuspid valve, which may partially or completely close the defect; an LV-to-RA shunt may also be associated with this defect" [http://emedicine.medscape.com]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0010420	muscular ventricular septal defect	"abnormal communications between the two lower chambers of the heart, involving the muscular septum and often occurring as multiple communications, and includes central muscular or midmuscular, apical, or marginal communications when the defect is along the RV-septal junction; any single defect observed from the LV aspect may have several openings on the RV aspect" [http://emedicine.medscape.com]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0010427	double outlet heart left ventricle	"both the aorta and the pulmonary trunk originate from the left ventricle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0010431	atrial situs inversus	"anomaly in the asymmetry of the cardiac atria such that atria on both the left and right side have the morphology normally seen on the opposite side of the body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0010440	anomalous pulmonary venous connection	"abnormal development and attachment of the four pulmonary veins that normally attach to the left atrium of the heart, resulting in either partial or complete anomalous drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the superior or inferior vena cava, the innominate vein, the coronary sinus or the left subclavian artery" [http://emedicine.medscape.com]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0010490	abnormal inferior vena cava valve morphology	"any structural anomaly of the semicircular fold of endocardium located on the right atrium at the point of attachment of the inferior vena cava" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0010572	persistent right dorsal aorta	"persistence of the right dorsal aorta after development; the right dorsal aorta normally regresses but when it persists, a double aortic arch develops; if the left dorsal aorta also regresses, a right aortic arch forms" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
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]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
MP:0011089	complete perinatal lethality	"death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
MP:0011100	complete preweaning lethality	"death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0011250	abdominal situs ambiguus	"an abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements" [MGI:csmith, PMID:18039396]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0011759	absent Rathke s pouch	"absence of the diverticulum arsing from the embryonic buccal cavity from which the anterior lobe of the pituitary gland is developed" [MGI:anna]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
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]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
MP:0012730	abnormal internal carotid artery morphology	"any structural anomaly of the terminal branch of the left or right common carotid artery which supplies oxygenated blood to the brain and eyes" [MGI:anna]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013186	abnormal basilar artery morphology	"any structural anomaly of the unpaired artery that is formed by the union of the two vertebral arteries, runs forward within the skull just under the pons, divides into the two posterior cerebral arteries, and supplies the pons, cerebellum, posterior part of the cerebrum, and the inner ear" [MGI:anna]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013349	small Rathke s pouch	"reduced size of the pouch of ectoderm which grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland" [MGI:Anna]	Show Allelic Composition: Ncoa1^tm1Bwo/Ncoa1^tm1Bwo,Ncoa2^tm1.1Ipc/Ncoa2^tm1.1Ipc,Pgr^tm2(cre)Lyd/Pgr⁺ Genetic Background: involves: 129/Sv * 129S1/Sv * 129S2/SvPas * 129X1/SvJ
MP:0013828	thin facial nerve	"a slender apperance of the sensory and motor nerve that supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue" [ISBN:0-683-40008-8]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013830	abnormal intrathoracic topology of vagus nerve	"abnormal position of the vagus nerve in the intrathoracic region" [MGI:csmith]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013834	thin hypoglossal nerve	"slender appearance of the motor nerve which innervates all the intrinsic and all but one of the extrinsic muscles of the tongue" [ISBN:0-683-40008-8]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013835	absent hypoglossal nerve	"absence of the motor nerve which innervates all the intrinsic and all but one of the extrinsic muscles of the tongue" [ISBN:0-683-40008-8]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013836	abnormal hypoglossal nerve topology	"abnormal position of the hypoglossal nerve " [MGI:csmith]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013840	absent segment of posterior cerebral artery	"absence of a portion of one of a pair of blood vessels that supplies oxygenated blood to the posterior aspect of the brain" [UBERON:0001636]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013848	subcutaneous edema	"accumulation of watery or serous fluid in the subcutaneous region below the skin" [MGI:csmith]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013852	abnormal Mullerian duct topology	"aberrant position of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina" [ISBN:0-683-40008-8]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013853	abnormal hepatic portal vein formation	"aberrant formation of the wide short vein formed from the confluence of the superior mesenteric, inferior mesenteric and splenic veins, and then divides into the right and left branches which ramify with the liver" [ISBN:0-683-40008-8]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013858	abnormal azygos vein topology	"abnormal position(s) of the unpaired vein which in humans arises from the right ascending lumbar vein or the vena cava, enters the thorax through the aortic orifice in the diaphragm, and terminates in the superior vena cava; unlike humans, mice have a single and left-sided azygos vein that develops from the paired embryonic cardinal venous system and drains most of the right and left thoracic walls into the left anterior vena cava" [MGI:anna]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013859	abnormal vitelline vein connection	"aberrant or missing attachment of the paired veins that carry blood from the yolk sac back to the embryo" [ISBN:0-683-40008-8, MGI:csmith]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013861	abnormal pancreas topology	"abnormal postion of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream" [ISBN:0-683-40008-8]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013867	abnormal ventral pancreas morphology	"any structural anomaly of the transient embryonic structure that fuses with the dorsal pancreas during development to form a single organ; the ventral pancreatic bud gives rise to the pancreatic head and uncinate process" [PMID:23909279]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013876	absent ductus venosus valve	"absence of the valve present on the right side of the ductus venosus at the site of the junction with the inferior vena cava" [PMID:5438957]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013878	abnormal ductus venosus valve topology	"abnormal position of the valve present on the right side of the ductus venosus at the site of the junction with the inferior vena cava" [PMID:5438957]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013914	absent intracranial segment of vertebral artery		Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013917	persistent right 6th pharyngeal arch artery		Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013928	thin motoric part of trigeminal nerve		Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013952	retro-esophageal left subclavian artery		Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013970	absent connection between subcutaneous lymph vessels and lymph sac		Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013975	abnormal coronary sinus connection		Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013977	symmetric azygos veins		Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013979	abnormal subclavian artery origin		Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013982	inverse situs of great intrathoracic arteries		Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013985	abnormal umbilical vein topology	"abnormal position of the umbilical vein in relationship to other umbilical cord structures" [MGI:csmith]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013987	absent intrahepatic inferior vena cava segment		Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013996	abnormal vertebral artery origin		Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013997	abnormal internal carotid artery topology	"abnormal position of the terminal branch of the left or right common carotid artery which supplies oxygenated blood to the brain and eyes" [MGI:csmith]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013998	absent canalicular internal carotid artery segment		Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0013999	absent parasellar internal carotid artery		Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0014000	anastomosis between internal carotid artery and basilar artery		Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0014012	abnormal cranial blood vasculature morphology	"any structural anomaly of blood vasculature that is part of a head" [UBERON:0011362]	Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0014021	heterochrony		Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0014023	abnormal intestine placement		Show Allelic Composition: Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Rpgrip1l^{tm1a(EUCOMM)Wtsi} Genetic Background: C57BL/6N-Rpgrip1l^{tm1a(EUCOMM)Wtsi}/Wtsi

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSMUSG00000027378	Nphp1 / nephronophthisis 1 (juvenile) homolog (human) / O15259* / nephrocystin 1*	/ complex
ENSMUSG00000039577	Nphp4 / P59240 / Mus musculus nephronophthisis 4 (juvenile) homolog (human) (Nphp4), transcript variant 2, mRNA. / O75161* / nephrocystin 4*	/ complex
ENSMUSG00000003037	Rab8a / P55258 / RAB8A, member RAS oncogene family / P61006*	/ reaction
ENSMUSG00000004771	P62492 / Rab11a / RAB11A, member RAS oncogene family / P62491*	/ complex

0 s.

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		© Olivier Tassy / Olivier Pourquie 2007-2024 contact: otassy@igbmc.fr