Manteia - Molecule gene

ENSMUSG00000024169

Mus musculus

Features

Gene ID:	ENSMUSG00000024169

Biological name :	Ift140

Synonyms :	E9PY46 / Ift140 / Intraflagellar transport

Possible biological names infered from orthology :	intraflagellar transport 140 / Q96RY7

Species:	Mus musculus

Chr. number:	17
Strand:	1
Band:	A3.3
Gene start:	25016091
Gene end:	25099495

Corresponding Affymetrix probe sets:	10442651 (MoGene1.0st) 1417255_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000116163 Ensembl peptide - ENSMUSP00000116689 Ensembl peptide - ENSMUSP00000024983 NCBI entrez gene - 106633 See in Manteia. MGI - MGI:2146906 RefSeq - XM_006523408 RefSeq - XM_006523403 RefSeq - XM_006523404 RefSeq - XM_006523406 RefSeq - XM_006523407 RefSeq - NM_134126 RefSeq - XM_006523402 RefSeq Peptide - NP_598887 swissprot - E9Q925 swissprot - E9Q682 swissprot - E9PY46 Ensembl - ENSMUSG00000024169

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

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
ift140	ENSDARG00000031886	Danio rerio
IFT140	ENSGALG00000009318	Gallus gallus
IFT140	ENSG00000187535	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name

ID

Similarity(%)

No match

Protein motifs (from Interpro)

Interpro ID	Name
IPR001680	WD40 repeat
IPR011042	Six-bladed beta-propeller, TolB-like
IPR011990	Tetratricopeptide-like helical domain superfamily
IPR015943	WD40/YVTN repeat-like-containing domain superfamily
IPR036322	WD40-repeat-containing domain superfamily

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0007368	determination of left/right symmetry	IMP
biological_process	GO:0007507	heart development	IMP
biological_process	GO:0008589	regulation of smoothened signaling pathway	IMP
biological_process	GO:0021532	neural tube patterning	IMP
biological_process	GO:0030030	cell projection organization	IEA
biological_process	GO:0031076	embryonic camera-type eye development	IMP
biological_process	GO:0035108	limb morphogenesis	IMP
biological_process	GO:0035721	intraciliary retrograde transport	IMP
biological_process	GO:0035845	photoreceptor cell outer segment organization	IMP
biological_process	GO:0042073	intraciliary transport	IMP
biological_process	GO:0042733	embryonic digit morphogenesis	IMP
biological_process	GO:0048701	embryonic cranial skeleton morphogenesis	IMP
biological_process	GO:0048705	skeletal system morphogenesis	IEA
biological_process	GO:0060041	retina development in camera-type eye	IEA
biological_process	GO:0060271	cilium assembly	IMP
biological_process	GO:0061512	protein localization to cilium	IEA
biological_process	GO:0072001	renal system development	IEA
biological_process	GO:1902017	regulation of cilium assembly	IEA
biological_process	GO:1905515	non-motile cilium assembly	IMP
biological_process	GO:1990403	embryonic brain development	IMP
cellular_component	GO:0001750	photoreceptor outer segment	IDA
cellular_component	GO:0005737	cytoplasm	IEA
cellular_component	GO:0005813	centrosome	IEA
cellular_component	GO:0005815	microtubule organizing center	IEA
cellular_component	GO:0005856	cytoskeleton	IEA
cellular_component	GO:0005929	cilium	IDA
cellular_component	GO:0005930	axoneme	IDA
cellular_component	GO:0030991	intraciliary transport particle A	IEA
cellular_component	GO:0032391	photoreceptor connecting cilium	IDA
cellular_component	GO:0036064	ciliary basal body	IEA
cellular_component	GO:0042995	cell projection	IEA
cellular_component	GO:0097730	non-motile cilium	IDA
molecular_function	GO:0003674	molecular_function	ND
molecular_function	GO:0005515	protein binding	IEA

Pathways (from Reactome)

Pathway description

Hedgehog off state

Intraflagellar transport

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000075	absent neurocranium	"missing bones of the skull enclosing the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0000080	abnormal exoccipital bone morphology	"malformed lateral part of the occipital bone" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:23837]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
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: Adamts6^b2b2407Clo/Adamts6^b2b2407Clo Genetic Background: C57BL/6J-Adamts6^b2b2407Clo
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: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0000153	rib bifurcation	"forking or division of ribs, may be a result of partial rib fusions" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
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: Fgfr1^{tm1.1(KOMP)Vlcg}/Fgfr1⁺ Genetic Background: C57BL/6N-Fgfr1^{tm1.1(KOMP)Vlcg}/Ucd
MP:0000269	abnormal looping morphogenesis	"atypical bending of the primitive heart tube during early development" [J:27443]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0000281	abnormal ventricular septum morphology	"abnormality in the wall between the ventricles of the heart, usually incomplete closure" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0000428	abnormal craniofacial morphology	"anomalous structure or development of the face and/or cranium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0000452	abnormal mouth morphology	"anomalous structure or development of the oral cavity" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu Allelic Composition: Ift140^{tm1b(KOMP)Wtsi}/Ift140^{tm1b(KOMP)Wtsi} Genetic Background: involves: C57BL/6N
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: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0000457	maxilla hypoplasia	"arrested growth or atrophy 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, tc:Teresa Chu , Mouse Genome Informatics Curator, J:54637]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0000522	cysts in kidney cortex	"abnormal membranous sacs appearing in the renal lobules, tubules and glomeruli" [J:50844]	Show Allelic Composition: Cdkn1a^tm1Led/Cdkn1a^tm1Led,Kdm8^tm1.2Tasu/Kdm8^tm1.2Tasu Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C3H * C57BL/6
MP:0000562	polydactyly	"greater than 5 digits on one or more autopods" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu Allelic Composition: Ift140^b2b1283Clo/Ift140^b2b1283Clo Genetic Background: C57BL/6J-Ift140^b2b1283Clo
MP:0000565	oligodactyly	"congenital condition in which some digits or parts of digits are missing" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
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: Ift140^b2b1283Clo/Ift140^b2b1283Clo Genetic Background: C57BL/6J-Ift140^b2b1283Clo
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: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu Allelic Composition: Ift140^{tm1b(KOMP)Wtsi}/Ift140^{tm1b(KOMP)Wtsi} Genetic Background: involves: C57BL/6N
MP:0001175	abnormal lung morphology	"malformed organ of respiration" [J:35802]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
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: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0001688	abnormal somite development	"anomalous formation of any of the paired, metamerically arranged cell masses formed in the embryonic paraxial mesoderm" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0002110	abnormal digit morphology	"abnormal development of the digits resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0002135	abnormal kidney morphology	"abnormal development of the kidney resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Cdkn1a^tm1Led/Cdkn1a^tm1Led,Kdm8^tm1.2Tasu/Kdm8^tm1.2Tasu Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C3H * C57BL/6
MP:0002136	abnormal kidney physiology	"altered ability or inability to excrete urine, not due to anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Cdkn1a^tm1Led/Cdkn1a^tm1Led,Kdm8^tm1.2Tasu/Kdm8^tm1.2Tasu Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C3H * C57BL/6
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: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0002192	hydrops fetalis	"an abnormal accumulation of serous fluid in fetal tissues" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0002624	abnormal tricuspid valve morphology	"malformation of the valve with three cusps located between the right atrium and the right ventricle of the heart" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0002633	persistent truncus arteriosis	"complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Ift140^b2b1283Clo/Ift140^b2b1283Clo Genetic Background: C57BL/6J-Ift140^b2b1283Clo
MP:0002745	abnormal atrioventricular valve morphology	"malformation of the valves that gate the flow of blood from the atria into the ventricles" [J:82728, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0003051	curly tail	"a loop or corkscrew-like curl in the tail" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0003052	omphalocele	"protrusion of abdominal viscera at the base of the umbilical cord, with a covering membranous sac of peritoneum-amnion" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0003054	spina bifida	"common congenital midline defect of fusion of the vertebral arch" [MeSH:National Library of Medicine - Medical Subject Headings, 2003]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0003138	absent tympanic ring	"missing the bony ring at the ear canal to which the tympanic membrane is attached" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:46972]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
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: Ift140^b2b1283Clo/Ift140^b2b1283Clo Genetic Background: C57BL/6J-Ift140^b2b1283Clo
MP:0003606	kidney failure	"cessation of renal function" [ncbi:Matthew Mailman, NCBI request]	Show Allelic Composition: Cdkn1a^tm1Led/Cdkn1a^tm1Led,Kdm8^tm1.2Tasu/Kdm8^tm1.2Tasu Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C3H * C57BL/6
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]	Show Allelic Composition: Cdkn1a^tm1Led/Cdkn1a^tm1Led,Kdm8^tm1.2Tasu/Kdm8^tm1.2Tasu Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C3H * C57BL/6 Allelic Composition: Ift140^b2b1283Clo/Ift140^b2b1283Clo Genetic Background: C57BL/6J-Ift140^b2b1283Clo
MP:0003720	abnormal neural tube closure	"abnormal invagination and fusion of the neuroepithelial layer in early development" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:99099]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0003985	renal fibrosis	"formation of fibrous tissue in the kidney as a result of repair or a reactive process" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Cdkn1a^tm1Led/Cdkn1a^tm1Led,Kdm8^tm1.2Tasu/Kdm8^tm1.2Tasu Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C3H * C57BL/6
MP:0004113	abnormal aortic arch morphology	"structural anomoly of the portion of the descending aorta proceeding from the arch of the aorta and extending to the diaphragm " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Ift140^b2b1283Clo/Ift140^b2b1283Clo Genetic Background: C57BL/6J-Ift140^b2b1283Clo
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: Ift140^b2b1283Clo/Ift140^b2b1283Clo Genetic Background: C57BL/6J-Ift140^b2b1283Clo
MP:0004458	absent alisphenoid bone	"absence of the broad curved wing like expanses on each side of the sphenoid bone in adults; may exist independently in the young" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0004476	absent palatine bone	"absence of either of two irregularly shaped bones that form the back of the hard palate and helps to form the nasal cavity and the floor of the orbits" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0004620	cervical vertebral fusion	"the union of one or more cervical vertebrae into a single structure" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0004647	decreased lumbar vertebrae number	"reduced number of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae" [MESH:National Library of Medicine_Medical Subject Headings]	Show Allelic Composition: Fgfr1^{tm1.1(KOMP)Vlcg}/Fgfr1⁺ Genetic Background: C57BL/6N-Fgfr1^{tm1.1(KOMP)Vlcg}/Ucd
MP:0004754	abnormal kidney collecting duct	"any structural anomaly of the duct that drains fluid from the nephron and either allows bodily reabsorbtion of water or allows the fluid to drain to the bladder via the ureter; the collecting duct system also maintains acid-base homeostasis" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Cdkn1a^tm1Led/Cdkn1a^tm1Led,Kdm8^tm1.2Tasu/Kdm8^tm1.2Tasu Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C3H * C57BL/6
MP:0004860	dilated kidney collecting duct	"stretched or widened aperture of the luminal space of the collecting ducts" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Cdkn1a^tm1Led/Cdkn1a^tm1Led,Kdm8^tm1.2Tasu/Kdm8^tm1.2Tasu Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C3H * C57BL/6
MP:0004871	premaxilla hypoplasia	"underdevelopment or reduced size, usually due to a reduced number of cells, in the anterior and interior portion of the maxilla" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0005294	abnormal heart ventricle morphology	"structural anomaly of one or both of the two lower chambers of the heart " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
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: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0008149	abnormal rib-vertebral column attachment	"any anomaly in the in the normal joining of the ribs to the vertebral column" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0009698	heart hemorrhage	"bleeding into the heart" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0009877	exostosis	"a projection of bone, sometimes a benign tumor, that is capped by cartilage and arises from a bone that develops from cartilage" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0009883	palatal shelf hypoplasia	"reduced size of the palatal projections from the inner part of the maxillary processes that fuse to form the secondary palate, often due to reduced cell number" [PMID:16680722]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0010101	increased sacral vertebrae number	"increase of any or all of the four bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fgfr1^{tm1.1(KOMP)Vlcg}/Fgfr1⁺ Genetic Background: C57BL/6N-Fgfr1^{tm1.1(KOMP)Vlcg}/Ucd
MP:0010412	atrioventricular septal defect	"defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partial atrioventricular septal defect (partial AVSD), to defects of both the primum atrial septum and inlet ventricular septum and the presence of a common atrioventricular valve, referred to as complete atrioventricular septal defect (complete AVSD)" [http://emedicine.medscape.com]	Show Allelic Composition: Ift140^b2b1283Clo/Ift140^b2b1283Clo Genetic Background: C57BL/6J-Ift140^b2b1283Clo
MP:0010728	fusion of atlas and occipital bones	"union of elements of the atlas and the bone at the lower, posterior part of the skull into one structure" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0010865	prenatal growth retardation	"slow or limited development during the prenatal period" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0011092	complete embryonic lethality	"death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]	Show Allelic Composition: Cdkn1a^tm1Led/Cdkn1a^tm1Led,Kdm8^tm1.2Tasu/Kdm8^tm1.2Tasu Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C3H * C57BL/6
MP:0011098	complete embryonic lethality during organogenesis	"death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]	Show Allelic Composition: Ift140^{tm1b(KOMP)Wtsi}/Ift140^{tm1b(KOMP)Wtsi} Genetic Background: involves: C57BL/6N
MP:0011099	complete lethality throughout fetal growth and development	"death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
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: Hcrt^{tm1.1(KOMP)Vlcg}/Hcrt^{tm1.1(KOMP)Vlcg} Genetic Background: C57BL/6N-Hcrt^{tm1.1(KOMP)Vlcg}/Ucd
MP:0011109	partial lethality throughout fetal growth and development	"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 the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0011307	kidney medulla cysts	"abnormal membranous sacs appearing in the inner portion of the kidney which consists of the renal pyramids" [MGI:anna]	Show Allelic Composition: Cdkn1a^tm1Led/Cdkn1a^tm1Led,Kdm8^tm1.2Tasu/Kdm8^tm1.2Tasu Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C3H * C57BL/6
MP:0011368	increased kidney apoptosis	"increase in the number of cells of the kidney undergoing programmed cell death" [MGI:anna]	Show Allelic Composition: Cdkn1a^tm1Led/Cdkn1a^tm1Led,Kdm8^tm1.2Tasu/Kdm8^tm1.2Tasu Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C3H * C57BL/6
MP:0011440	increased kidney cell proliferation	"increase in the expansion rate of any kidney cell population by cell division" [MGI:anna]	Show Allelic Composition: Cdkn1a^tm1Led/Cdkn1a^tm1Led,Kdm8^tm1.2Tasu/Kdm8^tm1.2Tasu Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C3H * C57BL/6
MP:0013167	abnormal hindlimb bud morphology	"any structural anomaly of the limb bud that develops into a hindlimb (usually the leg or back limb in mammalian species)" [MGI:anna]	Show Allelic Composition: Ift140^{tm1b(KOMP)Wtsi}/Ift140^{tm1b(KOMP)Wtsi} Genetic Background: involves: C57BL/6N
MP:0013203	abnormal primary cilium morphology	"any structural anomaly of a cilium found on many different cell types that is typically present in a single copy per cell; a primary cilium may have a variable array of axonemal microtubules and may or may not contain molecular motors" [GO:0072372]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0020383	decreased kidney epithelial cell primary cilium length	"decreased length of the cilia on cells of the renal tubule or collecting duct" [ORCID: orcid.org/0000-0003-4606-0597]	Show Allelic Composition: Cdkn1a^tm1Led/Cdkn1a^tm1Led,Kdm8^tm1.2Tasu/Kdm8^tm1.2Tasu Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C3H * C57BL/6
MP:0030385	absent facial bone	"failure to develop or absence of one or more facial bones" [MGI:anna]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu
MP:0030386	facial bone hypoplasia	"underdevelopment or reduced size of one or more facial bones, usually due to a reduced number of cells" [MGI:anna]	Show Allelic Composition: Fras1^bfb/Fras1^bfb Genetic Background: involves: C3H/HeH * C57BL/6JAnu

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSMUSG00000066643	Wdr35 / Q8BND3 / WD repeat domain 35 / Q9P2L0*	/ complex
ENSMUSG00000040836	B2RPY5 / Gpr161 / G protein-coupled receptor 161 / Q8N6U8*	/ reaction / complex
ENSMUSG00000001521	Tulp3 / O88413 / tubby-like protein 3 / O75386*	/ complex / reaction
ENSMUSG00000034848	Q0HA38 / Ttc21b / tetratricopeptide repeat domain 21B / Q7Z4L5*	/ complex
ENSMUSG00000030323	Ift122 / Q6NWV3 / Intraflagellar transport / Q9HBG6* / intraflagellar transport 122*	/ complex
ENSMUSG00000037890	Wdr19 / Q3UGF1 / WD repeat domain 19 / Q8NEZ3*	/ complex

0 s.

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