Manteia - Molecule gene

ENSMUSG00000039842

Mus musculus

Features

Gene ID:	ENSMUSG00000039842

Biological name :	Mcph1

Synonyms :	Mcph1 / Microcephalin / Q7TT79

Possible biological names infered from orthology :	microcephalin 1 / Q8NEM0

Species:	Mus musculus

Chr. number:	8
Strand:	1
Band:	A1.3
Gene start:	18595131
Gene end:	18803189

Corresponding Affymetrix probe sets:	10570556 (MoGene1.0st) 1429911_at (Mouse Genome 430 2.0 Array) 1439115_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000119267 Ensembl peptide - ENSMUSP00000131616 Ensembl peptide - ENSMUSP00000131698 Ensembl peptide - ENSMUSP00000037000 Ensembl peptide - ENSMUSP00000121636 NCBI entrez gene - 244329 See in Manteia. MGI - MGI:2443308 RefSeq - XM_017312792 RefSeq - XM_011242058 RefSeq - XM_011242059 RefSeq - XM_017312788 RefSeq - XM_017312789 RefSeq - XM_017312790 RefSeq - XM_017312791 RefSeq - NM_173189 RefSeq - XM_006508786 RefSeq - XM_011242056 RefSeq - XM_011242057 RefSeq Peptide - NP_775281 swissprot - F6QJ89 swissprot - G3UWE9 swissprot - F6Q8J5 swissprot - E9PX19 swissprot - Q7TT79 Ensembl - ENSMUSG00000039842

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

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
mcph1	ENSDARG00000058372	Danio rerio
MCPH1	ENSGALG00000016332	Gallus gallus
MCPH1	ENSG00000147316	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name

ID

Similarity(%)

No match

Protein motifs (from Interpro)

Interpro ID	Name
IPR001357	BRCT domain
IPR022047	Microcephalin-like
IPR029504	Microcephalin, mammal
IPR036420	BRCT domain 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:0000132	establishment of mitotic spindle orientation	IMP
biological_process	GO:0010468	regulation of gene expression	IMP
biological_process	GO:0021987	cerebral cortex development	IEA
biological_process	GO:0043549	regulation of kinase activity	IMP
biological_process	GO:0046605	regulation of centrosome cycle	IMP
biological_process	GO:0050727	regulation of inflammatory response	IMP
biological_process	GO:0060348	bone development	IMP
biological_process	GO:0060623	regulation of chromosome condensation	IMP
biological_process	GO:0071539	protein localization to centrosome	IMP
biological_process	GO:0071850	mitotic cell cycle arrest	IEA
biological_process	GO:0097150	neuronal stem cell population maintenance	IMP
cellular_component	GO:0005623	cell	IEA
cellular_component	GO:0005737	cytoplasm	IEA
cellular_component	GO:0005815	microtubule organizing center	IEA
cellular_component	GO:0005856	cytoskeleton	IEA
molecular_function	GO:0042802	identical protein binding	IEA

Pathways (from Reactome)

Pathway description

No match

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000063	reduced bone density	"decreased mineral content of bone; indicator of bone strength" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:57315]	Show Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Mcph1^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0000433	microcephaly	"an abnormally small head" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Pax7^{tm1.1(HBEGF)Mal}/Pax7⁺,Tg(Pax7-EGFP)#Tajb/0 Genetic Background: involves: C57BL/6 * SJL/J Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0000774	reduced brain size	"smaller appearance of the brain" [J:35802]	Show Allelic Composition: Pax7^{tm1.1(HBEGF)Mal}/Pax7⁺,Tg(Pax7-EGFP)#Tajb/0 Genetic Background: involves: C57BL/6 * SJL/J
MP:0000913	abnormal brain development	"malformed or incomplete differentiation of the brain" [MGI:cls, J:49840]	Show Allelic Composition: Pax7^{tm1.1(HBEGF)Mal}/Pax7⁺,Tg(Pax7-EGFP)#Tajb/0 Genetic Background: involves: C57BL/6 * SJL/J
MP:0001116	small gonad	"reduced size of the testis or the ovary" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]	Show Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0001147	small testis	"reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]	Show Allelic Composition: Ppara^tm1Gonz/Ppara^tm1Gonz Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0001262	decreased body weight	"lower than normal average weight " [J:61295]	Show Allelic Composition: Ppara^tm1Gonz/Ppara^tm1Gonz Genetic Background: involves: 129S4/SvJae * C57BL/6J Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Mcph1^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0001297	microphthalmia	"reduced average size of the eyes" [J:18048]	Show Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0001303	abnormal lens morphology	"malformed transparent structure of the eye responsible for focusing light rays" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:40203]	Show Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0001304	cataracts	"complete or partial opacity of the lens" [J:65031]	Show Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0001312	abnormal cornea morphology	"malformation or absence of the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Mcph1^{tm1a(EUCOMM)Wtsi}/Wtsi Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0001314	corneal opacity	"complete or partial clouding of the cornea" [jte:Janan T. Eppig , Mouse Genome Informatics, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Mcph1^{tm1a(EUCOMM)Wtsi}/Wtsi Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0001324	abnormal eye pigmentation	"change in the normal black pigmentation of the eye to another color, or lack of color" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Mcph1^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0001328	disorganized retinal layers	"delaminated or mispositioned sheets of cells comprising the optic part of the retina" [J:33400]	Show Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0001658	increased mortality induced by gamma-irradiation	"greater sensitivity to doses of ionizing radiation" [J:51834]	Show Allelic Composition: Ppara^tm1Gonz/Ppara^tm1Gonz Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0001924	infertility	"inability to produce live offspring" [J:47225]	Show Allelic Composition: Pax7^{tm1.1(HBEGF)Mal}/Pax7⁺,Tg(Pax7-EGFP)#Tajb/0 Genetic Background: involves: C57BL/6 * SJL/J
MP:0001925	male infertility	"inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]	Show Allelic Composition: Ppara^tm1Gonz/Ppara^tm1Gonz Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0001926	female infertility	"inability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]	Show Allelic Composition: Ppara^tm1Gonz/Ppara^tm1Gonz Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0001973	increased thermal nociceptive threshold	"a greater than average point at which thermal pain sensation is first detectable" [What s Wrong With My Mouse?:ISBN 0-471-31639-3, J:17194]	Show Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Mcph1^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0002007	increased sensitivity to gamma-irradiation	"increased incidence of cell death following high levels of gamma-irradiation" [J:51834]	Show Allelic Composition: Ppara^tm1Gonz/Ppara^tm1Gonz Genetic Background: involves: 129S4/SvJae * C57BL/6J
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: Lgr6^{tm2.1(cre/ERT2)Cle}/Lgr6^{tm2.1(cre/ERT2)Cle} Genetic Background: Not Specified
MP:0002160	abnormal reproductive system morphology	"structural or developmental anomaly of any of the tissues involved in the reproductive system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Lrig1^{tm1a(EUCOMM)Wtsi}/Lrig1^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0002161	abnormal fertility/fecundity	"reduced ability or inability to produce live offspring" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Lrig1^{tm1a(EUCOMM)Wtsi}/Lrig1^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0002216	abnormal seminiferous tubule morphology	"malformation of the tubules in the testes where spermatogenesis occurs" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Ppara^tm1Gonz/Ppara^tm1Gonz Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0002444	abnormal T cell physiology	"anomalous response of T lymphocytes" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Ppara^tm1Gonz/Ppara^tm1Gonz Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0002777	absent ovarian follicles	"lack of the sac-like structures in the ovaries that surround the ova" [J:42612, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Ppara^tm1Gonz/Ppara^tm1Gonz Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0003077	abnormal cell cycle	"failure to progress or abnormal progression through the stages of of the cell cycle" [smb:Susan M. Bello, Mouse Genome Informatics Curator, J:91266]	Show Allelic Composition: Pax7^{tm1.1(HBEGF)Mal}/Pax7⁺,Tg(Pax7-EGFP)#Tajb/0 Genetic Background: involves: C57BL/6 * SJL/J
MP:0003203	increased neuron apoptosis	"increase in the number of neurons undergoing programmed cell death" [RGD:Rat Genome Database submission]	Show Allelic Composition: Pax7^{tm1.1(HBEGF)Mal}/Pax7⁺,Tg(Pax7-EGFP)#Tajb/0 Genetic Background: involves: C57BL/6 * SJL/J
MP:0003205	testicular atrophy	"wasting of the male reproductive glands resulting in reduced size" [RGD:Rat Genome Database submission]	Show Allelic Composition: Pax7^{tm1.1(HBEGF)Mal}/Pax7⁺,Tg(Pax7-EGFP)#Tajb/0 Genetic Background: involves: C57BL/6 * SJL/J
MP:0003702	abnormal chromosome morphology	"anomalies in the structure of the compact, intertwined molecules of DNA found in the nucleus which carry genetic information " [hdene:Howard Dene , Mouse Genome Informatics Curator]	Show Allelic Composition: Lgr6^{tm2.1(cre/ERT2)Cle}/Lgr6^{tm2.1(cre/ERT2)Cle} Genetic Background: Not Specified Allelic Composition: Mcph1^tm1.1Zqw/Mcph1^tm1.1Zqw Genetic Background: Not Specified
MP:0003961	decreased lean body mass	"less than average fat-free physical bulk or volume of the body including all its components except adipose tissue" [honda:Hiraoki Onda, Mouse GEnome Informatics Curator]	Show Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Mcph1^{tm1a(EUCOMM)Wtsi}/Wtsi
MP:0004030	induced chromosome breakage	"chromosome breakage following treatment with a DNA-damaging agent " [llw2:Linda Washburn , Mouse Genome Informatics Curator]	Show Allelic Composition: Ppara^tm1Gonz/Ppara^tm1Gonz Genetic Background: involves: 129S4/SvJae * C57BL/6J
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: Lgr6^{tm2.1(cre/ERT2)Cle}/Lgr6^{tm2.1(cre/ERT2)Cle} Genetic Background: Not Specified Allelic Composition: Mcph1^tm1.1Zqw/Mcph1^tm1.1Zqw Genetic Background: Not Specified
MP:0004738	abnormal brainstem auditory evoked potential	"anomaly in the electrical activity generated in response to short tone bursts; may be used to evaluate sensorineural hearing function" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0004803	increased susceptibility to autoimmune diabetes	"greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Ltbp3^m1Btlr/Ltbp3^m1Btlr Genetic Background: either: C57BL/6J-Ltbp3^m1Btlr or (involves: C3H/HeJ * C57BL/6J) Allelic Composition: B2m^tm1Unc/B2m^tm1Unc,Tg(B2M)55Hpl/Tg(B2M)55Hpl,Mcph1^{Tg(HLA-A2.1)1Enge}/Mcph1^{Tg(HLA-A2.1)1Enge} Genetic Background: NOD.Cg-B2m^tm1Unc Mcph1^{Tg(HLA-A2.1)1Enge} Tg(B2M)55Hpl Allelic Composition: Mcph1^{Tg(HLA-A2.1)1Enge}/Mcph1⁺ Genetic Background: NOD.B6-Mcph1^{Tg(HLA-A2.1)1Enge}
MP:0004804	decreased susceptibility to autoimmune diabetes	"reduced likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Trim71^{Gt(H004C06)Wrst}/Trim71^{Gt(H004C06)Wrst} Genetic Background: B6J.129S2-Trim71^{Gt(H004C06)Wrst}
MP:0004833	ovary atrophy	"wasting of the ovary due to injury or disease resulting in reduced size" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Mcph1^tm1.1Zqw/Mcph1^tm1.1Zqw Genetic Background: Not Specified
MP:0004856	decreased ovary weight	"reduction in the average weight of the female reproductive gland containing the germ cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Ppara^tm1Gonz/Ppara^tm1Gonz Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0004901	decreased male germ cell number	"reduced numbers of male germ cells whether they are undifferentiated or fully differentiated" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Ppara^tm1Gonz/Ppara^tm1Gonz Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0004948	abnormal neuronal precursor proliferation	"any anomaly in the ability of a neuroblast population to undergo rapid expansion by cell division" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Mcph1^tm1.1Zqw/Mcph1^tm1.1Zqw Genetic Background: Not Specified
MP:0005000	immune tolerance	"the failure to respond to an antigen " [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: Col1a1^tm1.1Jcm/Col1a1⁺ Genetic Background: either: (involves: 129X1/SvJ * C3H/HeJ) or (involves: 129X1/SvJ * CD-1)
MP:0005014	increased B cell number	"greater than normal B cell numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0005169	abnormal male meiosis	"malfunction in the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Ppara^tm1Gonz/Ppara^tm1Gonz Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0005205	abnormal eye anterior chamber	"anomaly of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0005300	abnormal corneal stroma morphology	"structural anomaly of the lamellated connective tissue of the cornea" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0005542	corneal vascularization	"formation of blood vessels in the cornea, which normally lacks vessels" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Mcph1^{tm1a(EUCOMM)Wtsi}/Wtsi Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0005559	increased circulating glucose level	"greater than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, RGD:Rat Genome Database submission]	Show Allelic Composition: Prf1^tm1Sdz/Prf1^tm1Sdz,Rag1^tm1Mom/Rag1^tm1Mom Genetic Background: NOD.Cg-Rag1^tm1Mom Prf1^tm1Sdz/SzJ
MP:0005671	response to transplant	"the body s reaction to the grafting of organs, tissues, or cells taken from the same individual for another area of the body or from another individual" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator, J:52834]	Show Allelic Composition: Prkdc^scid/Prkdc^scid,Tg(B2M)55Hpl/0,Mcph1^{Tg(HLA-A2.1)1Enge}/Mcph1⁺ Genetic Background: NOD.Cg-Mcph1^{Tg(HLA-A2.1)1Enge} Prkdc^scid Tg(B2M)55Hpl/Sz
MP:0006254	thin cerebral cortex	"decreased depth of the mantle covering the surface of the cerebral hemispheres" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:84683]	Show Allelic Composition: Mcph1^tm1.1Zqw/Mcph1^tm1.1Zqw Genetic Background: Not Specified
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: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: B6JTyr;B6N-Mcph1^{tm1a(EUCOMM)Wtsi}/Wtsi Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0006380	abnormal spermatid morphology	"anomaly in the number or structure of the male germ cells that without further cell division give rise to mature spermatozoa" [ISBN:0-8036-0655-99 "Taber s Cyclopedic Medical Dictionary, 19th edition", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Ppara^tm1Gonz/Ppara^tm1Gonz Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0008261	arrest of male meiosis	"cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Ppara^tm1Gonz/Ppara^tm1Gonz Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0008280	male germ cell apoptosis	"presence of male germs cells that undergo programmed cell death" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Ppara^tm1Gonz/Ppara^tm1Gonz Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0008441	thin cortical plate	"reduced thickness of the outer neural tube region in which post-mitotic neuroblasts migrate along radial glia to form the adult cortical layers" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:1812236]	Show Allelic Composition: Mcph1^tm1.1Zqw/Mcph1^tm1.1Zqw Genetic Background: Not Specified
MP:0008457	abnormal cortical intermediate zone morphology	"any structural anomaly of the region of the developing mammalian cortex that extends between the ventricular zone and the cortical plate (CP); normally, the IZ is a region of tangential migration of cells, and at midgestation, the lower part of the IZ develops into the subventricular zone" [PMID:10632599]	Show Allelic Composition: Mcph1^tm1.1Zqw/Mcph1^tm1.1Zqw Genetic Background: Not Specified
MP:0008547	abnormal neocortex morphology	"any structural anomaly of the larger part of the mammalian cerebral cortex, distinguished from the allocortex by being composed of a larger number of nerve cells arranged in six layers" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A08.186.211.730.885.213.420]	Show Allelic Composition: Mcph1^tm1.1Zqw/Mcph1^tm1.1Zqw Genetic Background: Not Specified
MP:0008770	decreased survivor rate	"a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Lgr6^{tm2.1(cre/ERT2)Cle}/Lgr6^{tm2.1(cre/ERT2)Cle} Genetic Background: Not Specified
MP:0008866	chromosomal instability	"abnormalities of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis that increase the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an enhanced rate of loss of heterozygosity" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator", PMID:12446840]	Show Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0009332	abnormal splenocyte morphology	"any structural anomaly of a cell of the spleen" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pax1^Un-s/Pax1^Un-s Genetic Background: B6.CC57BR-Pax1^Un-s
MP:0009760	abnormal mitotic spindle	"an anomaly in the formation of the ellipsoidal (bipolar) collection of fibers visible during nuclear division and cytokinesis responsible for accurate segregation of chromosomes during mitosis" [ISBN:8185198691 "Rieger R et al Eds Glossary of Genetics Classical and Molecular"]	Show Allelic Composition: Mcph1^tm1.1Zqw/Mcph1^tm1.1Zqw Genetic Background: Not Specified
MP:0009937	abnormal neuron differentiation	"abnormal growth or development of the cells of the nervous system that receive, conduct, and transmit impulses" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Mcph1^tm1.1Zqw/Mcph1^tm1.1Zqw Genetic Background: Not Specified
MP:0010124	decreased bone mineral content	"reduction in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0010869	decreased bone trabecula number	"decreased number of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force" [http://www.dorlands.com/ "Dorland s Illustrated Medical Dictionary, 31st edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0010873	decreased trabecular bone mass	"reduced total amount of trabecular bone tissue contained in the skeleton" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0010879	decreased trabecular bone volume	"decrease in the amount of space occupied by trabecular bone tissue in the skeleton" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0011090	partial perinatal lethality	"the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]	Show Allelic Composition: Ppara^tm1Gonz/Ppara^tm1Gonz Genetic Background: involves: 129S4/SvJae * C57BL/6J
MP:0011962	increased cornea thickness	"increased width of the cornea in the center plane" [MGI:csmith]	Show Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N
MP:0012538	persistent hyaloid artery	"incomplete regression of the hyaloid artery, usually accompanied by persistence of the hyperplastic primary vitreous; small remnants of the artery may remain with free remnants sometimes seen as floating material (aka muscae volitantes); an anterior remnant of the hyaloid artery can be seen as Mittendorf s dot, a small pinpoint-like scar on the posterior surface of the lens; a posterior remnant may be seen where the artery left the optic disc, and is known as Bergmeister s papilla" [MGI:anna]	Show Allelic Composition: Mcph1^{tm1a(EUCOMM)Wtsi}/Mcph1^{tm1a(EUCOMM)Wtsi} Genetic Background: involves: C57BL/6 * C57BL/6N

Interacting proteins (from Reactome)

Interactor ID

Name

Interaction type

No match

0 s.

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