Manteia

ENSMUSG00000029275

Mus musculus

Features

Gene ID:	ENSMUSG00000029275

Biological name :	Gfi1

Synonyms :	Gfi1 / growth factor independent 1 transcriptional repressor

Possible biological names infered from orthology :	Q99684

Species:	Mus musculus

Chr. number:	5
Strand:	-1
Band:	F
Gene start:	107716657
Gene end:	107726036

Corresponding Affymetrix probe sets:	10532124 (MoGene1.0st) 1417679_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000135039 Ensembl peptide - ENSMUSP00000135880 Ensembl peptide - ENSMUSP00000135884 Ensembl peptide - ENSMUSP00000137229 NCBI entrez gene - 14581 See in Manteia. MGI - MGI:103170 RefSeq - XM_011249409 RefSeq - NM_010278 RefSeq - XM_006534791 RefSeq - XM_006534792 RefSeq - XM_006534793 RefSeq - XM_006534794 RefSeq - NM_001267621 RefSeq Peptide - NP_034408 RefSeq Peptide - NP_001254550 swissprot - H3BLQ9 swissprot - H3BJM0 swissprot - A0A0R4J292 Ensembl - ENSMUSG00000029275

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
gfi1aa	ENSDARG00000020746	Danio rerio
gfi1ab	ENSDARG00000044457	Danio rerio
GFI1	ENSGALG00000043650	Gallus gallus
GFI1	ENSG00000162676	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Gfi1b / O70237 / Zinc finger protein Gfi-1b / Q5VTD9* / growth factor independent 1B transcriptional repressor*	ENSMUSG00000026815	41
Fezf1 / Q0VDQ9 / Fez family zinc finger protein 1 / A0PJY2* / FEZ family zinc finger 1*	ENSMUSG00000029697	21
Fezf2 / Q9ESP5 / Fez family zinc finger protein 2 / Q8TBJ5* / FEZ family zinc finger 2*	ENSMUSG00000021743	21
Q8BGV5 / Zfp128 / zinc finger protein 128 / ZNF8* / P17098* / zinc finger protein 8*	ENSMUSG00000060397	19

Protein motifs (from Interpro)

Interpro ID	Name
IPR013083	Zinc finger, RING/FYVE/PHD-type
IPR013087	Zinc finger C2H2-type
IPR029840	Zinc finger protein Gfi-1/1b
IPR036236	Zinc finger C2H2 superfamily

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0000122	negative regulation of transcription by RNA polymerase II	IEA
biological_process	GO:0006355	regulation of transcription, DNA-templated	IEA
biological_process	GO:0010956	negative regulation of calcidiol 1-monooxygenase activity	IEA
biological_process	GO:0010977	negative regulation of neuron projection development	IEA
biological_process	GO:0030097	hemopoiesis	IEA
biological_process	GO:0034121	regulation of toll-like receptor signaling pathway	IEA
biological_process	GO:0045892	negative regulation of transcription, DNA-templated	IEA
biological_process	GO:0051569	regulation of histone H3-K4 methylation	IEA
biological_process	GO:0070105	positive regulation of interleukin-6-mediated signaling pathway	IEA
biological_process	GO:0071222	cellular response to lipopolysaccharide	IEA
cellular_component	GO:0005634	nucleus	IEA
cellular_component	GO:0016363	nuclear matrix	IEA
cellular_component	GO:0016604	nuclear body	IEA
cellular_component	GO:0017053	transcriptional repressor complex	IEA
molecular_function	GO:0001078	transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding	IEA
molecular_function	GO:0003676	nucleic acid binding	IEA
molecular_function	GO:0044212	transcription regulatory region DNA binding	IEA

Pathways (from Reactome)

Pathway description

No match

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000043	organ of Corti degeneration	"a retrogressive impairment of function or destruction of the highly specialized epithelium in the floor of the ductus cochlearis" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J
MP:0000220	increased monocyte count	"greater than normal monocyte numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Gfi1^{tm5.1(GFI1)Tmo}/Gfi1^{tm5.1(GFI1)Tmo} Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 Allelic Composition: Gfi1^tm1Tmo/Gfi1^tm1Tmo Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000222	decreased neutrophil count	"fewer than normal neutrophil numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6 Allelic Composition: Gfi1^tm2Tmo/Gfi1^tm2Tmo Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 Allelic Composition: Gfi1^tm4Tmo/Gfi1^tm4Tmo Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Gfi1^tm1Tmo/Gfi1^tm1Tmo Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000334	decreased granulocyte number	"fewer than expected number of leukocytes that have abundant granules in the cytoplasm: basophils, neutrophils, or eosinophils" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6 Allelic Composition: Gfi1^{tm3(Gfib1)Tmo}/Gfi1^{tm3(Gfib1)Tmo} Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Gfi1^tm1Tmo/Gfi1^tm1Tmo Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0000706	small thymus	"reduced size of the thymus" [J:36561, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:31167]	Show Allelic Composition: Gfi1^tm1.1Wep/Gfi1^tm1.1Wep Genetic Background: B6.129-Gfi1^tm1.1Wep
MP:0000715	decreased thymocyte number	"fewer than expected number of precursors to T cells; these cells are lymphoid cells found in the thymus " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6 Allelic Composition: Gfi1^tm2Tmo/Gfi1^tm2Tmo Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 Allelic Composition: Gfi1^tm4Tmo/Gfi1^tm4Tmo Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Gfi1^tm1Tmo/Gfi1^tm1Tmo Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0001262	decreased body weight	"lower than normal average weight " [J:61295]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6
MP:0001265	reduced body size	"smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]	Show Allelic Composition: Hdac5^tm1Eno/Hdac5^tm1Eno,Tg(Myh6-Camta2)1Eno/0 Genetic Background: involves: 129S2/SvPas Allelic Composition: Gfi1^tm1.1Wep/Gfi1^tm1.1Wep Genetic Background: B6.129-Gfi1^tm1.1Wep Allelic Composition: Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J
MP:0001393	ataxia	"inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]	Show Allelic Composition: Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J
MP:0001394	circling	"repeated, compulsive movement in a circle; often associated with inner ear defects" [MGI:CLS, J:61295]	Show Allelic Composition: Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J
MP:0001399	hyperactivity	"general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]	Show Allelic Composition: Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J
MP:0001410	head bobbing	"compulsive up and down movement of the head" [J:17123]	Show Allelic Composition: Gfi1^{tm3(Gfib1)Tmo}/Gfi1^{tm3(Gfib1)Tmo} Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0001601	abnormal myelopoiesis	"atypical process of bone marrow cell formation and/or bone marrow-derived blood cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:tc]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6 Allelic Composition: Gfi1^Gen/Gfi1⁺ Genetic Background: C57BL/6J-Gfi1^Gen
MP:0001732	postnatal growth retardation	"slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J
MP:0001823	thymus hypoplasia	"small size due to reduced cell number in the thymus" [J:23255]	Show Allelic Composition: Gfi1^tm1.1Wep/Gfi1^tm1.1Wep Genetic Background: B6.129-Gfi1^tm1.1Wep
MP:0001825	arrested T cell development	"failure of T cell formation to proceed past a defined stage" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Gfi1^tm1.1Wep/Gfi1^tm1.1Wep Genetic Background: B6.129-Gfi1^tm1.1Wep
MP:0001967	deafness	"inability to hear" [J:57651]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6 Allelic Composition: Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J Allelic Composition: Gfi1^tm4Tmo/Gfi1^tm4Tmo Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Gfi1^{tm3(Gfib1)Tmo}/Gfi1^{tm3(Gfib1)Tmo} Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Gfi1^tm1(cre)Gan/Gfi1⁺,Rfx1^tm1.1Wrth/Rfx1^tm1.1Wrth,Rfx3^tm2Wrth/Rfx3^tm2Wrth Genetic Background: involves: 129 * 129S7/SvEvBrd
MP:0002083	premature death	"death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6 Allelic Composition: Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J Allelic Composition: Gfi1^{tm5.1(GFI1)Tmo}/Gfi1^{tm5.1(GFI1)Tmo},Kras^tm4Tyj/Kras⁺,Tg(Mx1-cre)1Cgn/0 Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * CBA Allelic Composition: Gfi1^{tm5.1(GFI1)Tmo}/Gfi1⁺,Kras^tm4Tyj/Kras⁺,Tg(Mx1-cre)1Cgn/0 Genetic Background:* involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * CBA Allelic Composition: Gfi1^{tm6.1(GFI1)Tmo}/Gfi1^{tm6.1(GFI1)Tmo},Kras^tm4Tyj/Kras⁺,Tg(Mx1-cre)1Cgn/0 Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * CBA
MP:0002123	abnormal hematopoiesis	"abnormal development of the enucleated fetal and adult erythrocytes that develop in the aorta, genital ridge and mesonephros region and later in the fetal and adult liver" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Hdac5^tm1Eno/Hdac5^tm1Eno,Tg(Myh6-Camta2)1Eno/0 Genetic Background: involves: 129S2/SvPas Allelic Composition: Gfi1^{tm5.1(GFI1)Tmo}/Gfi1^{tm5.1(GFI1)Tmo} Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 Allelic Composition: Gfi1^{tm5.1(GFI1)Tmo}/Gfi1⁺ Genetic Background:* involves: 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0002145	abnormal T lymphocyte development	"atypical production of or inability to produce mature T cells, and/or accumulation of T cell precursors" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6 Allelic Composition: Gfi1^tm2Tmo/Gfi1^tm2Tmo Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 Allelic Composition: Gfi1^tm4Tmo/Gfi1^tm4Tmo Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0002401	abnormal lymphopoiesis	"atypcial formation of lymphocytes and plasma cells from lymphoid stem cells which develop from the pluripotent hematopoietic stem cells in the bone marrow; these lymphoid stem cells differentiate into T-lymphocytes; B-lymphocytes; plasma cells; or NK-cells (natural killer cells), depending on the organ or tissues to which they migrate" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Pou4f3^ddl/Pou4f3^ddl Genetic Background: C57BL/6J-Pou4f3^ddl/J
MP:0002620	abnormal monocyte morphology	"anomalous structure, number, or development of the white blood cells that are precursors to macrophages" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Gfi1^tm4Tmo/Gfi1^tm4Tmo Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Gfi1^{tm3(Gfib1)Tmo}/Gfi1^{tm3(Gfib1)Tmo} Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0002622	abnormal cochlear hair cell morphology	"malformation of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J Allelic Composition: Atoh1^tm2Hzo/Atoh1⁺,Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J
MP:0002623	abnormal vestibular hair cell morphology	"malformation of the sensory epithelial cells of the membraneous labyrinth of the inner ear; these cells are in synaptic contact with the vestibular nerve" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J Allelic Composition: Atoh1^tm2Hzo/Atoh1⁺,Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J
MP:0002857	cochlear ganglion degeneration	"loss of neural cell bodies in the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J
MP:0003009	abnormal cytokine secretion	"impairment or increase of the cellular release of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells " [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, smb:Susan M. Bello , Mouse Genome Informatics Curator]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6
MP:0003944	abnormal T cell subpopulation ratio	"deviation from the standard ratios of T cell subpopulations (e.g. double positive to single positive ratio) compared to control samples" [mberry:Melissa Berry, Genetics Resources Curator]	Show Allelic Composition: Hdac5^tm1Eno/Hdac5^tm1Eno,Tg(Myh6-Camta2)1Eno/0 Genetic Background: involves: 129S2/SvPas
MP:0004046	abnormal mitosis	"anomaly in the process of cell division including both division of the nucleus (karyokinesis) and the cytoplasm (cytokinesis) " [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Gfi1^{tm5.1(GFI1)Tmo}/Gfi1^{tm5.1(GFI1)Tmo} Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 Allelic Composition: Gfi1^{tm5.1(GFI1)Tmo}/Gfi1⁺ Genetic Background:* involves: 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0004327	increased vestibular hair cell number	"increased number of cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear which are normally in synaptic contact with the vestibular nerve" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J
MP:0004362	cochlear hair cell degeneration	"degeneration or loss of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J Allelic Composition: Atoh1^tm2Hzo/Atoh1⁺,Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J
MP:0004393	abnormal cochlear inner hair cell morphology	"any structural abnormality in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there is a single row of flask-shaped inner hair cells tightly surrounded by supporting interphalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a more or less linear (or shallow) U-shaped pattern extend from the cell s surface through the cuticular plate into the endolymphic space inferior to the tectorial membrane" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6 Allelic Composition: Gfi1^tm4Tmo/Gfi1^tm4Tmo Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Gfi1^{tm3(Gfib1)Tmo}/Gfi1^{tm3(Gfib1)Tmo} Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0004398	cochlear inner hair cell degeneration	"degeneration or loss of the single row of flask-shaped inner hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J Allelic Composition: Gfi1^tm1(cre)Gan/Gfi1⁺,Rfx1^tm1.1Wrth/Rfx1^tm1.1Wrth,Rfx3^tm2Wrth/Rfx3^tm2Wrth Genetic Background: involves: 129 * 129S7/SvEvBrd
MP:0004399	abnormal cochlear outer hair cell morphology	"any structural abnormality in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there are three rows of columnar outer hair cells largely surrounded by cortilymph and supporting phalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a V-shaped pattern extend from the cell s surface through the cuticular plate into the tectorial membrane" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6 Allelic Composition: Gfi1^tm4Tmo/Gfi1^tm4Tmo Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Gfi1^{tm3(Gfib1)Tmo}/Gfi1^{tm3(Gfib1)Tmo} Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0004402	decreased cochlear outer hair cell number	"decreased number (or less than the expected 3 rows) of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J Allelic Composition: Gfi1^tm1(cre)Gan/Gfi1⁺,Rfx1^tm1.1Wrth/Rfx1^tm1.1Wrth,Rfx3^tm2Wrth/Rfx3^tm2Wrth Genetic Background: involves: 129 * 129S7/SvEvBrd
MP:0004403	absent cochlear outer hair cells	"absence of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gfi1^tm1(cre)Gan/Gfi1⁺,Rfx1^tm1.1Wrth/Rfx1^tm1.1Wrth,Rfx3^tm2Wrth/Rfx3^tm2Wrth Genetic Background: involves: 129 * 129S7/SvEvBrd
MP:0004404	cochlear outer hair cell degeneration	"degeneration or loss of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6 Allelic Composition: Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J Allelic Composition: Gfi1^tm4Tmo/Gfi1^tm4Tmo Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Gfi1^{tm3(Gfib1)Tmo}/Gfi1^{tm3(Gfib1)Tmo} Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0004434	abnormal cochlear outer hair cell physiology	"anomalies in processes pertinent to the function of cochlear OHCs which are known to enhance the performance of the cochlea, both qualitatively (increased selectivity) and quantitatively (increased sensitivity); in addition to the mechanoelectric transduction required for auditory sensation, OHCs also perform electromechanical transduction, whereby transmembrane voltage drives rapid changes in the length and stiffness of OHCs at audio frequencies in vitro (electromotility)" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gfi1^tm1(cre)Gan/Gfi1⁺,Rfx1^tm1.1Wrth/Rfx1^tm1.1Wrth,Rfx3^tm2Wrth/Rfx3^tm2Wrth Genetic Background: involves: 129 * 129S7/SvEvBrd
MP:0004465	degeneration of supporting cells	"degeneration or loss of the highly differentiated epithelial cells with distinctive morphological features that surround all hair cells in the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J
MP:0004515	abnormal vestibular hair cell stereociliary bundle morphology	"any structural anomaly or disruption of the typical staircase-like arrangement of the mechanosensitive hair bundles which are composed of thick long microvilli (stereocilia) and are located at the apical end of vestibular hair cells of the utricle and saccule" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Atoh1^tm2Hzo/Atoh1⁺,Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J
MP:0004527	abnormal outer hair cell stereociliary bundle morphology	"any structural anomaly or disruption of the typical V or W-like pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear OHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest (outermost) row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6 Allelic Composition: Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J
MP:0004530	absent outer hair cell stereocilia	"complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear outer hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gfi1^tm4Tmo/Gfi1^tm4Tmo Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Gfi1^{tm3(Gfib1)Tmo}/Gfi1^{tm3(Gfib1)Tmo} Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0004532	abnormal inner hair cell stereociliary bundle morphology	"any structural anomaly or disruption of the typically linear or U-shaped pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear IHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6
MP:0004536	short inner hair cell stereocilia	"reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6
MP:0004589	abnormal cochlear hair cell development	"atypical initial production, differentiation, migration or maturation of the sensory epithelial cells of the cochlea" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J
MP:0004632	abnormal cochlear OHC efferent innervation	"any changes in the morphology or number of efferent terminals, occurring as clusters, in the cochlear OHC region; normally, medial olivocochlear neurons, which are primarily found in rostral and ventral periolivary regions, project mainly to the contralateral cochlea, and terminate directly on OHCs" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J
MP:0004742	abnormal vestibular system physiology	"any functional anomaly of the sensory system responsible for the sense of head position and movement of the body through space; such anomalies may include impaired balance, dizziness, poor regulation of postural muscle tone and inability to detect quick movements of the head " [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6 Allelic Composition: Gfi1^tm4Tmo/Gfi1^tm4Tmo Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0004809	increased hematopoietic stem cell number	"greater cell count of the multipotent, self-renewing stem cells found in the bone marrow and the fetal liver; these give rise to all the types of both the myeloid and lymphoid cell lineages" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gfi1^tm1Tmo/Gfi1^tm1Tmo Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0004810	decreased hematopoietic stem cell number	"reduced cell count of the multipotent, self-renewing stem cells found in the bone marrow and the fetal liver; these give rise to all the types of both the myeloid and lymphoid cell lineages" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Lmna^tm3Lgf/Lmna^tm3Lgf Genetic Background: involves: 129P2/OlaHsd
MP:0005016	decreased lymphocyte number	"fewer than normal white blood cell numbers " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6 Allelic Composition: Gfi1^tm4Tmo/Gfi1^tm4Tmo Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0005017	decreased B cell number	"fewer than normal B cell numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6 Allelic Composition: Gfi1^tm1.1Wep/Gfi1^tm1.1Wep Genetic Background: B6.129-Gfi1^tm1.1Wep Allelic Composition: Gfi1^tm1Tmo/Gfi1^tm1Tmo Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0005018	decreased T cell number	"fewer than normal T cell numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6
MP:0005065	abnormal neutrophil morphology	"structural anomaly of the granular leukocytes that have a three- to five-lobed nucleus and a cytoplasm that contains inconspicuous granules stainable by neutral dyes" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Gfi1^tm4Tmo/Gfi1^tm4Tmo Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0005089	decreased double-negative T cell count	"reduced numbers of the subset of T cells found in the thymus that express neither CD4 nor CD8 " [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]	Show Allelic Composition: Gfi1^tm4Tmo/Gfi1^tm4Tmo Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0005094	abnormal T cell proliferation	"anomaly in the clonal expansion of naive T cells" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]	Show Allelic Composition: Hdac5^tm1Eno/Hdac5^tm1Eno,Tg(Myh6-Camta2)1Eno/0 Genetic Background: involves: 129S2/SvPas Allelic Composition: Gfi1^tm1Wep/Gfi1^tm1Wep Genetic Background: B6.129-Gfi1^tm1Wep
MP:0005191	head tilt	"condition in which the portion of the body containing the brain and organs of sight, hearing, taste, and smell lists to the side" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J
MP:0005466	abnormal T helper 2 physiology	"anomalous response of the subset of T helper cells that enhance humoral immunity and inhibit cell-mediated immune responses; these cells produce IL-4 and induce B cells to produce IgE and IgG1, while also supporting eosinophil and mast cell functions " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Hdac5^tm1Eno/Hdac5^tm1Eno,Tg(Myh6-Camta2)1Eno/0 Genetic Background: involves: 129S2/SvPas
MP:0006042	increased apoptosis	"greater than normal programmed cell death" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Gfi1^tm1(cre)Gan/Gfi1⁺,Rfx1^tm1.1Wrth/Rfx1^tm1.1Wrth,Rfx3^tm2Wrth/Rfx3^tm2Wrth Genetic Background: involves: 129 * 129S7/SvEvBrd
MP:0006325	impaired hearing	"reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gfi1^tm1(cre)Gan/Gfi1⁺,Rfx1^tm1.1Wrth/Rfx1^tm1.1Wrth,Rfx3^tm2Wrth/Rfx3^tm2Wrth Genetic Background: involves: 129 * 129S7/SvEvBrd
MP:0006358	absent pinna reflex	"complete failure to respond to an auditory stimulus by a characteristic ear twitch" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gfi1^tm4Tmo/Gfi1^tm4Tmo Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Gfi1^{tm3(Gfib1)Tmo}/Gfi1^{tm3(Gfib1)Tmo} Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0006359	absent startle reflex	"failure to respond to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gfi1^tm1Sho/Gfi1^tm1Sho Genetic Background: involves: 129S1/Sv * C57BL/6J
MP:0008053	abnormal NK cell differentiation	"atypical production of or inability to produce the non-T, non-B lymphocytes, having a granular morphology and which are important in innate immunity to viruses and other intracellular pathogens; in addition, these cells can kill certain tumor cells" [ISBN:0-8153-1691-7 "Immunobiology, The Immune System in Health and Disease"]	Show Allelic Composition: Gfi1^Gen/Gfi1⁺ Genetic Background: C57BL/6J-Gfi1^Gen
MP:0008111	abnormal granulocyte differentiaton	"atypical production of or inability to produce leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6
MP:0008112	abnormal monocyte differentiation	"atypical production of or inability to produce the large, phagocytic mononuclear leukocytes produced in the vertebrate bone marrow and released into the blood" [CL:0000576, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6
MP:0008560	increased tumor necrosis factor secretion	"increase in the production or release of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium" [ISBN:0-8153-1691-7 "Immunobiology, The Immune System in Health and Disease", MESH:D12.644.276.374.500.800]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6
MP:0008657	increased interleukin-1 beta secretion	"increase in the production or release of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane" [MESH:D12.644.276.374.465.501.600]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6
MP:0008660	increased interleukin-10 secretion	"increase in the production or release of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation" [MESH:D12.644.276.374.465.510]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6
MP:0008735	increased susceptibility to endotoxin shock	"more than the expected early reaction of the microcirculation to endotoxins such as LPS, characterized by movement of fluid and leukocytes from the blood into extravascular tissues and often resulting in death" [MGI:tmeehan "Terry Meehan, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd,Pou3f3^tm1Rmc/Pou3f3^tm1Rmc Genetic Background: involves: 129S4/SvJae * C57BL/6
MP:0008791	decreased NK cell degranulation	"reduction in the exocytosis of secretory granules containing preformed mediators, such as perforin and granzyme, from NK cells" [MGI:brs "Beverly Richards-Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gfi1^Gen/Gfi1⁺ Genetic Background: C57BL/6J-Gfi1^Gen
MP:0010373	myeloid hyperplasia	"greater than normal number of nucleated cells of the myeloid lineage (a monocyte, granulocyte, or mast cell), found in blood or other tissue" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gfi1^{tm5.1(GFI1)Tmo}/Gfi1^{tm5.1(GFI1)Tmo},Kras^tm4Tyj/Kras⁺,Tg(Mx1-cre)1Cgn/0 Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * CBA Allelic Composition: Gfi1^{tm5.1(GFI1)Tmo}/Gfi1⁺,Kras^tm4Tyj/Kras⁺,Tg(Mx1-cre)1Cgn/0 Genetic Background:* involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * CBA Allelic Composition: Gfi1^{tm6.1(GFI1)Tmo}/Gfi1^{tm6.1(GFI1)Tmo},Kras^tm4Tyj/Kras⁺,Tg(Mx1-cre)1Cgn/0 Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * CBA
MP:0010766	abnormal NK cell physiology	"any functional anomaly of a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells" [GOC:add, ISBN:0781735149, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:15771571]	Show Allelic Composition: Gfi1^Gen/Gfi1⁺ Genetic Background: C57BL/6J-Gfi1^Gen
MP:0011061	abnormal inner hair cell kinocilium morphology	"any structural anomaly of the nonmotile primary cilium that is found at the apical surface of inner hair cells" [GO:0060091]	Show Allelic Composition: Gfi1^tm1(cre)Gan/Gfi1⁺,Rfx1^tm1.1Wrth/Rfx1^tm1.1Wrth,Rfx3^tm2Wrth/Rfx3^tm2Wrth Genetic Background: involves: 129 * 129S7/SvEvBrd
MP:0011689	absent neutrophils	"absence of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes" [CL:0000775, MGI:csmith]	Show Allelic Composition: Gfi1^Gen/Gfi1⁺ Genetic Background: C57BL/6J-Gfi1^Gen
MP:0011967	increased or absent threshold for auditory brainstem response	"increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]	Show Allelic Composition: Gfi1^{tm3(Gfib1)Tmo}/Gfi1^{tm3(Gfib1)Tmo} Genetic Background: involves: 129S1/Sv * 129X1/SvJ Allelic Composition: Bmp2^tm1Brd/Bmp2^tm1.1Mis,Gfi1^tm1(cre)Gan/Gfi1⁺ Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6J

Interacting proteins (from Reactome)

Interactor ID

Name

Interaction type

No match

1 s.

External programs and data are copyrighted by and are the property of their respective authors. The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation
		© Olivier Tassy / Olivier Pourquie 2007-2024 contact: otassy@igbmc.fr