Manteia

ENSMUSG00000052534

Mus musculus

Features

Gene ID:	ENSMUSG00000052534

Biological name :	Pbx1

Synonyms :	P41778 / Pbx1 / Pre-B-cell leukemia transcription factor 1

Possible biological names infered from orthology :	P40424 / PBX homeobox 1

Species:	Mus musculus

Chr. number:	1
Strand:	-1
Band:	H2.3
Gene start:	168119364
Gene end:	168432270

Corresponding Affymetrix probe sets:	10359870 (MoGene1.0st) 1425383_a_at (Mouse Genome 430 2.0 Array) 1428646_at (Mouse Genome 430 2.0 Array) 1428647_at (Mouse Genome 430 2.0 Array) 1440037_at (Mouse Genome 430 2.0 Array) 1449542_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000072640 Ensembl peptide - ENSMUSP00000135516 Ensembl peptide - ENSMUSP00000140606 Ensembl peptide - ENSMUSP00000066385 Ensembl peptide - ENSMUSP00000134925 NCBI entrez gene - 18514 See in Manteia. MGI - MGI:97495 RefSeq - XM_006496700 RefSeq - NM_001291508 RefSeq - NM_001291509 RefSeq - NM_008783 RefSeq - NM_183355 RefSeq - XM_006496699 RefSeq Peptide - NP_032809 RefSeq Peptide - NP_899198 RefSeq Peptide - NP_001278437 RefSeq Peptide - NP_001278438 swissprot - P41778 swissprot - Q71VB4 swissprot - D9J2V6 Ensembl - ENSMUSG00000052534

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
pbx1a	ENSDARG00000100494	Danio rerio
pbx1b	ENSDARG00000101131	Danio rerio
PBX1	ENSGALG00000003429	Gallus gallus
PBX1	ENSG00000185630	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Pbx3 / O35317 / Pre-B-cell leukemia transcription factor 3 / P40426* / PBX homeobox 3*	ENSMUSG00000038718	84
Pbx2 / O35984 / pre B cell leukemia homeobox 2 / P40425* / PBX homeobox 2*	ENSMUSG00000034673	74
Pbx4 / Q99NE9 / Mus musculus pre B cell leukemia homeobox 4 (Pbx4), transcript variant 4, mRNA. / Q9BYU1* / PBX homeobox 4*	ENSMUSG00000031860	53

Protein motifs (from Interpro)

Interpro ID	Name
IPR001356	Homeobox domain
IPR005542	PBX
IPR009057	Homeobox-like domain superfamily
IPR017970	Homeobox, conserved site

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0001655	urogenital system development	IMP
biological_process	GO:0001658	branching involved in ureteric bud morphogenesis	IDA
biological_process	GO:0006351	transcription, DNA-templated	IEA
biological_process	GO:0006355	regulation of transcription, DNA-templated	IEA
biological_process	GO:0006366	transcription by RNA polymerase II	IEA
biological_process	GO:0006694	steroid biosynthetic process	IEA
biological_process	GO:0007275	multicellular organism development	IEA
biological_process	GO:0007548	sex differentiation	IEA
biological_process	GO:0008284	positive regulation of cell proliferation	IMP
biological_process	GO:0009887	animal organ morphogenesis	IMP
biological_process	GO:0009952	anterior/posterior pattern specification	IMP
biological_process	GO:0009954	proximal/distal pattern formation	IMP
biological_process	GO:0010971	positive regulation of G2/M transition of mitotic cell cycle	IMP
biological_process	GO:0030154	cell differentiation	IEA
biological_process	GO:0030278	regulation of ossification	IMP
biological_process	GO:0030325	adrenal gland development	IMP
biological_process	GO:0030326	embryonic limb morphogenesis	IGI
biological_process	GO:0035162	embryonic hemopoiesis	IMP
biological_process	GO:0042127	regulation of cell proliferation	IMP
biological_process	GO:0043433	negative regulation of DNA-binding transcription factor activity	ISO
biological_process	GO:0045665	negative regulation of neuron differentiation	IGI
biological_process	GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
biological_process	GO:0048536	spleen development	IMP
biological_process	GO:0048538	thymus development	IMP
biological_process	GO:0048568	embryonic organ development	IMP
biological_process	GO:0048706	embryonic skeletal system development	IMP
cellular_component	GO:0005634	nucleus	ISO
cellular_component	GO:0005654	nucleoplasm	TAS
cellular_component	GO:0005667	transcription factor complex	IDA
cellular_component	GO:0005737	cytoplasm	ISO
cellular_component	GO:0090575	RNA polymerase II transcription factor complex	ISO
molecular_function	GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	ISO
molecular_function	GO:0000978	RNA polymerase II proximal promoter sequence-specific DNA binding	IDA
molecular_function	GO:0001077	transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding	IDA
molecular_function	GO:0003677	DNA binding	ISO
molecular_function	GO:0003700	DNA-binding transcription factor activity	IEA
molecular_function	GO:0005515	protein binding	IPI
molecular_function	GO:0008134	transcription factor binding	ISO
molecular_function	GO:0043565	sequence-specific DNA binding	IGI
molecular_function	GO:0046982	protein heterodimerization activity	IPI

Pathways (from Reactome)

Pathway description

No match

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000029	abnormal malleus morphology	"structural anomaly in the largest of the three auditory ossicles, which resembles a club or hammer " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0000090	absent premaxilla	"missing anterior and interior portion of the maxilla" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17489]	Show Allelic Composition: Gak^tm2Legr/Gak^tm2Legr,Tg(KRT14-cre)1Amc/0 Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
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: Gak^tm2Legr/Gak^tm2Legr,Tg(KRT14-cre)1Amc/0 Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA Allelic Composition: Pbx1^tm1Koss/Pbx1^tm1Koss,Pbx3^tm1Mlc/Pbx3⁺,Foxg1^tm1(cre)Skm/Foxg1⁺ Genetic Background: involves: 129P2/OlaHsd Allelic Composition: Pbx1^tm1Koss/Pbx1^tm1Koss,Pbx2^tm1Mlc/Pbx2⁺,Tg(Tcfap2a-cre)1Will/0 Genetic Background: involves: 129P2/OlaHsd * 129S/Sv Allelic Composition: Pbx1^tm1Koss/Pbx1^tm1Koss,Pbx3^tm1Mlc/Pbx3⁺,Tg(Tcfap2a-cre)1Will/0 Genetic Background: involves: 129P2/OlaHsd Allelic Composition: Pbx1^tm1Koss/Pbx1^tm1Koss,Pbx2^tm1Mlc/Pbx2⁺,H2afv^{Tg(Wnt1-cre)11Rth}/0 Genetic Background: involves: 129P2/OlaHsd * 129S/Sv * C57BL/6J * CBA/J Allelic Composition: Pbx1^tm1Mlc/Pbx1^tm1Mlc,Pbx2^tm1Mlc/Pbx2⁺ Genetic Background: involves: 129S6/SvEvTac Allelic Composition: Pbx1^tm1Mlc/Pbx1^tm1Mlc,Pbx3^tm1Mlc/Pbx3⁺ Genetic Background: involves: 129S6/SvEvTac Allelic Composition: Pbx1^tm1Mlc/Pbx1⁺,Pbx2^tm1Mlc/Pbx2⁺,Pbx3^tm1Mlc/Pbx3⁺ Genetic Background: involves: 129S6/SvEvTac Allelic Composition: Pbx1^tm1Mlc/Pbx1⁺,Wnt9b^tm1Amc/Wnt9b^tm1Amc,Foxg1^tm1(cre)Skm/Foxg1⁺ Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * 129X1/SvJ
MP:0000149	abnormal scapula morphology	"malformation of either or both of the large, flat bones of the back part of the shoulder" [J:13049]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ Allelic Composition: Pbx1^tm1.1Koss/Pbx1^tm1.2Koss,Tmem163^{Tg(ACTB-cre)2Mrt}/0 Genetic Background: involves: 129P2/OlaHsd * FVB/N
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: Pbx1^tm1.1Koss/Pbx1^tm1.2Koss,Tmem163^{Tg(ACTB-cre)2Mrt}/0 Genetic Background: involves: 129P2/OlaHsd * FVB/N
MP:0000154	rib fusion	"appearance of one or more ribs as a single structure" [J:62022, J:62023]	Show Allelic Composition: Pbx1^tm1.1Koss/Pbx1^tm1.2Koss,Tmem163^{Tg(ACTB-cre)2Mrt}/0 Genetic Background: involves: 129P2/OlaHsd * FVB/N
MP:0000208	decreased hematocrit	"less than the average percentage of a volume of a blood sample occupied by red blood cells" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0000239	deficiency of myeloid colony forming progenitor cells	"lack of precursors of the myeloid cell types" [J:60630, tc:Teresa Chu , Mouse Genome Informatics Curator]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0000333	decreased bone marrow cell number	"decreased number of cells that make up the core cavities of bones when compared to the norm" [tc:Teresa Chu , Mouse Genome Informatics Curator, J:60896]	Show Allelic Composition: Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺,Tg(Smad7-cre)1Sjc/0 Genetic Background: involves: 129S/Sv * C3HeB/FeJ
MP:0000521	abnormal kidney cortex	"anomalous structure or development of the outer area of the kidney, which contains the glomerular capillaries and the capsula glomeruli that enclose it " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0000528	delayed kidney development	"late onset of the induction and/or differentiation of the kidney" [J:18048]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0000596	abnormal liver development	"anomalous differentiation of the liver" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Socs3^tm1Jni/Socs3⁺ Genetic Background: B6.129P2-Socs3^tm1Jni
MP:0000600	liver hypoplasia	"reduced size of liver due to decreased cell number " [J:57631]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0000689	abnormal spleen morphology	"atypical structure of the organ that functions to filter blood and to store red corpuscles and platelets" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:27463]	Show Allelic Composition: Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺,Tg(Smad7-cre)1Sjc/0 Genetic Background: involves: 129S/Sv * C3HeB/FeJ Allelic Composition: Nkx2-5^tm2(cre)Rph/Nkx2-5⁺,Pbx1^tm1.1Koss/Pbx1^tm1.1Koss Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv Allelic Composition: Pbx1^tm1Koss/Pbx1^tm1Koss,Nkx2-5^tm2(cre)Rph/Nkx2-5⁺ Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv Allelic Composition: Pbx1^tm1Koss/Pbx1^tm1Koss,Pbx2^tm1Mlc/Pbx2⁺,Nkx2-5^tm2(cre)Rph/Nkx2-5⁺ Genetic Background: involves: 129P2/OlaHsd * 129S/Sv * 129S1/Sv Allelic Composition: Cdkn2b^tm1Bbd/Cdkn2b^tm1Bbd,Pbx1^tm1Koss/Pbx1^tm1Koss,Nkx2-5^tm2(cre)Rph/Nkx2-5⁺ Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv
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: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ Allelic Composition: Pbx1^tm1.1Koss/Pbx1^tm1.2Koss,Tmem163^{Tg(ACTB-cre)2Mrt}/0 Genetic Background: involves: 129P2/OlaHsd * FVB/N
MP:0000692	small spleen	"decreased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺,Tg(Smad7-cre)1Sjc/0 Genetic Background: involves: 129S/Sv * C3HeB/FeJ
MP:0000694	spleen hypoplasia	"small size due to reduced cell number in the spleen" [J:43971]	Show Allelic Composition: Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺,Tg(Smad7-cre)1Sjc/0 Genetic Background: involves: 129S/Sv * C3HeB/FeJ Allelic Composition: Nkx2-5^tm2(cre)Rph/Nkx2-5⁺,Pbx1^tm1.1Koss/Pbx1^tm1.1Koss Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv Allelic Composition: Pbx1^tm1Koss/Pbx1^tm1Koss,Nkx2-5^tm2(cre)Rph/Nkx2-5⁺ Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv Allelic Composition: Pbx1^tm1.1Koss/Pbx1^tm1.1Koss,Tg(WT1-cre)AG11Dbdr/0 Genetic Background: involves: 129P2/OlaHsd * C57BL/6 Allelic Composition: Pbx1^tm1Koss/Pbx1^tm1Koss,Pbx2^tm1Mlc/Pbx2⁺,Nkx2-5^tm2(cre)Rph/Nkx2-5⁺ Genetic Background: involves: 129P2/OlaHsd * 129S/Sv * 129S1/Sv
MP:0000703	abnormal thymus morphology	"anomalous structure or development of the primary lymphoid organ; required for immune system development" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55400]	Show Allelic Composition: Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺,Tg(Smad7-cre)1Sjc/0 Genetic Background: involves: 129S/Sv * C3HeB/FeJ
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: Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺,Tg(Smad7-cre)1Sjc/0 Genetic Background: involves: 129S/Sv * C3HeB/FeJ
MP:0001178	pulmonary hypoplasia	"reduced size of the respiratory organ due to incomplete development of all or part of the organ " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Pathology , 2nd edition:ISBN 0-397-51047-0]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0001263	weight loss	"progressive reduction of body weight below normal average for age" [J:45400]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
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: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0001505	hunched posture	"stooped low with the limbs pulled in close to the body and arched back" [J:67231, J:30404]	Show Allelic Composition: Pbx1^tm1.1Febe/Pbx1^tm1.1Febe Genetic Background: involves: C57BL/6
MP:0001559	hyperglycemia	"abnormally high concentration of glucose in the blood; generally refers to a pathological state" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0001577	anemia	"less than normal levels of red blood cells, hemoglobin or volume of packed red blood cells " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0001606	impaired hematopoiesis	"atypical process of blood cell formation with the result of fewer of these cells being formed" [tc:Teresa Chu , Mouse Genome Informatics Curator, J:60896]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0001622	abnormal vasculogenesis	"aberrant process of the initial establishment of the vascular network " [J:67296, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Pbx1^tm1.1Febe/Pbx1^tm1.1Febe Genetic Background: involves: C57BL/6
MP:0001704	abnormal dorsal-ventral axis patterning	"anomaly in the development or formation of the axis that runs from the front to the back surface of the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0001705	abnormal proximal-distal axis patterning	"anomaly in the formation or development of a body structure, often a limb, in relation to the structure s proximity to the trunk or point of origin" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0001759	increased urine glucose level	"a greater level of excretion of glucose in the urine compared to the normal state" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0001785	edema	"an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54065]	Show Allelic Composition: Ern1^tm1Rjk/Ern1^tm2.1Rjk,Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺ Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA Allelic Composition: Pbx1^tm1Mlc/Pbx1^tm1Mlc,Pbx2^tm1Mlc/Pbx2⁺ Genetic Background: involves: 129S6/SvEvTac Allelic Composition: Pbx1^tm1Mlc/Pbx1^tm1Mlc,Pbx3^tm1Mlc/Pbx3⁺ Genetic Background: involves: 129S6/SvEvTac
MP:0001786	skin edema	"accumulation of an excessive amount of fluid in the skin" [J:65039]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ Allelic Composition: Pbx1^tm1.1Febe/Pbx1^tm1.1Febe Genetic Background: involves: C57BL/6
MP:0001823	thymus hypoplasia	"small size due to reduced cell number in the thymus" [J:23255]	Show Allelic Composition: Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺,Tg(Smad7-cre)1Sjc/0 Genetic Background: involves: 129S/Sv * C3HeB/FeJ
MP:0002084	abnormal developmental patterning	"abnormal systematic arrangement of the developing body along an axis" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0002085	abnormal embryonic tissue morphology	"structural abnormality or development of any embryonic tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0002088	abnormal embryonic growth/weight/body size	"limited or accelerated growth or development apparent before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ Allelic Composition: Pbx1^tm1.1Febe/Pbx1^tm1.1Febe Genetic Background: involves: C57BL/6
MP:0002109	abnormal limb morphology	"abnormal development of limbs resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Bdnf^tm1Limm/Bdnf^tm1Limm,Tg(GFAP-cre)25Mes/0 Genetic Background: involves: FVB/N
MP:0002114	abnormal axial skeleton morphology	"abnormal development of vertebral, spinal or sternal bones resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0002115	abnormal skeleton extremities morphology	"abnormal development of limb, foot or tail bones resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0002116	abnormal craniofacial bone morphology	"abnormal development of cranial or facial bones resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
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: Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺,Tg(Smad7-cre)1Sjc/0 Genetic Background: involves: 129S/Sv * C3HeB/FeJ Allelic Composition: Pbx1^tm1Mlc/Pbx1^tm3.1Mlc,Tg(Mx1-cre)1Cgn/0 Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0002169	no phenotype detected	"normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Pbx1^tm1Mlc/Pbx1^tm2.1Mlc Genetic Background: involves: 129S6/SvEvTac
MP:0002177	abnormal outer ear morphology	"malformation or malfunction of any components of the auricles or external acoustic meatus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0002345	abnormal lymph node primary follicle	"anomaly in the immunologically inactive B cell area of the lymph node cortex" [Pathology:ISBN 0-397-51047-0, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Socs3^tm1Jni/Socs3⁺ Genetic Background: B6.129P2-Socs3^tm1Jni
MP:0002594	low mean erythrocyte count	"less than average numbers of red blood cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0002639	micrognathia	"abnormally reduced size of the jaws, especially of the mandible" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Pbx1^tm1Mlc/Pbx1^tm1Mlc,Pbx2^tm1Mlc/Pbx2⁺ Genetic Background: involves: 129S6/SvEvTac Allelic Composition: Pbx1^tm1Mlc/Pbx1^tm1Mlc,Pbx3^tm1Mlc/Pbx3⁺ Genetic Background: involves: 129S6/SvEvTac
MP:0002768	small adrenal glands	"reduced size of endocrine glands located above the kidneys responsible for hormone and epinephrine secretion" [J:78062]	Show Allelic Composition: Pbx1^tm1.1Febe/Pbx1^tm1.1Febe Genetic Background: involves: C57BL/6
MP:0002891	increased insulin sensitivity	"greater ability to clear glucose from the bloodstream when given insulin than normal; can result in hypoglycemia" [RGD:Rat Genome Database submission]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ Allelic Composition: Pdx1^tm1Cvw/Pdx1⁺,Pbx1^tm1Mlc/Pbx1⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6
MP:0002989	small kidney	"reduced physical bulk one or both of the organs responsible for urine secretion" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0003007	ectopic thymus	"ectopic location of the thymus primordium, which normally resides in the superior mediastinum and lower part of the neck" [ava:Anna V. Anagnostopoulos , Mouse Genome Informatics Curator, J:76015]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0003014	abnormal kidney medulla morphology	"anomalous structure of the inner portion of the kidney consisting of the renal pyramids" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:88636, smb:Susan M. Bello , Mouse Genome Informatics Curator]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0003059	decreased insulin secretion	"less than normal release of this hormone secreted by beta cells of the pancreas, that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids " [MeSH:National Library of Medicine - Medical Subject Headings, 2003, RGD:Rat Genome Database submission]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ Allelic Composition: Pdx1^tm1Cvw/Pdx1⁺,Pbx1^tm1Mlc/Pbx1⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6
MP:0003446	renal hypoplasia	"decreased cell number in the kidney leading to reduced size" [llw2:Linda Washburn , Mouse Genome Informatics Curator]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0003600	ectopic kidney		Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0003604	single kidney		Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0003638	abnormal response/metabolism to endogenous compounds	"altered ability or inability to metabolize or respond to substances normally present in the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Pbx1^tm1.1Febe/Pbx1^tm1.1Febe Genetic Background: involves: C57BL/6
MP:0003717	pallor	"an unnatural paleness to the skin, generally attributable to anemia" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ Allelic Composition: Pbx1^tm1.1Febe/Pbx1^tm1.1Febe Genetic Background: involves: C57BL/6
MP:0003924	herniated diaphragm	"protrusion of abdominal contents into the thoracic cavity through the diaphragm" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0004204	absent stapes	"absence of the smallest and innermost of the three auditory ossicles" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0004344	scapular bone hypoplasia	"underdevelopment or reduced size, usually due to a reduced number of cells, in either or both of the large, flat bones of the back part of the shoulder" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pbx1^tm1.1Koss/Pbx1^tm1.2Koss,Tmem163^{Tg(ACTB-cre)2Mrt}/0 Genetic Background: involves: 129P2/OlaHsd * FVB/N
MP:0004353	abnormal deltoid tuberosity morphology	"any structural anomaly of a rough elevation at the middle of the lateral side of the shaft of the humerus to which the deltoid muscle attaches" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Pbx1^tm1.1Koss/Pbx1^tm1.2Koss,Tmem163^{Tg(ACTB-cre)2Mrt}/0 Genetic Background: involves: 129P2/OlaHsd * FVB/N
MP:0004505	decreased renal glomerulus number	"reduced number of the capillary loops of the kidney that normally function as a filtration unit" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0004509	abnormal pelvic girdle bone morphology	"any structural anomaly of the bones of the pelvis by which the limbs attach to the axial skeleton " [MGI:cwg "Carroll-Ann W. Goldsmith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0004538	abnormal maxillary shelf	"any structural anomaly of the outgrowth of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gak^tm2Legr/Gak^tm2Legr,Tg(KRT14-cre)1Amc/0 Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0004672	short ribs	"reduced length of the bones forming the bony wall of the chest" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Pbx1^tm1.1Koss/Pbx1^tm1.2Koss,Tmem163^{Tg(ACTB-cre)2Mrt}/0 Genetic Background: involves: 129P2/OlaHsd * FVB/N
MP:0004726	abnormal nasal capsule morphology	"any structural abnormality in the cartilage around the developing nasal cavity of the embryo" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gak^tm2Legr/Gak^tm2Legr,Tg(KRT14-cre)1Amc/0 Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0004808	abnormal hematopoietic stem cell morphology	"any structural anomaly 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: Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺,Tg(Smad7-cre)1Sjc/0 Genetic Background: involves: 129S/Sv * C3HeB/FeJ Allelic Composition: Pbx1^tm1Mlc/Pbx1^tm3.1Mlc,Tg(Mx1-cre)1Cgn/0 Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
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: Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺,Tg(Smad7-cre)1Sjc/0 Genetic Background: involves: 129S/Sv * C3HeB/FeJ Allelic Composition: Pbx1^tm1Mlc/Pbx1^tm3.1Mlc,Tg(Mx1-cre)1Cgn/0 Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0004936	abnormal ureteric bud branching morphogenesis	"partial or complete failure of the ureteric bud to repeatedly divide into lobules during development of the kidney" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0005017	decreased B cell number	"fewer than normal B cell numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺,Tg(Smad7-cre)1Sjc/0 Genetic Background: involves: 129S/Sv * C3HeB/FeJ
MP:0005018	decreased T cell number	"fewer than normal T cell numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺,Tg(Smad7-cre)1Sjc/0 Genetic Background: involves: 129S/Sv * C3HeB/FeJ
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: Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺,Tg(Smad7-cre)1Sjc/0 Genetic Background: involves: 129S/Sv * C3HeB/FeJ
MP:0005105	abnormal middle ear ossicle morphology	"anomalous structure or development of the three small bones of the middle ear" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
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: Gak^tm2Legr/Gak^tm2Legr,Tg(KRT14-cre)1Amc/0 Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA Allelic Composition: Pbx1^tm1Koss/Pbx1^tm1Koss,Pbx2^tm1Mlc/Pbx2^tm1Mlc,Foxg1^tm1(cre)Skm/Foxg1⁺ Genetic Background: involves: 129P2/OlaHsd * 129S/Sv Allelic Composition: Pbx1^tm1Koss/Pbx1^tm1Koss,Pbx3^tm1Mlc/Pbx3⁺,Foxg1^tm1(cre)Skm/Foxg1⁺ Genetic Background: involves: 129P2/OlaHsd Allelic Composition: Pbx1^tm1Koss/Pbx1^tm1Koss,Pbx2^tm1Mlc/Pbx2⁺,Tg(Tcfap2a-cre)1Will/0 Genetic Background: involves: 129P2/OlaHsd * 129S/Sv Allelic Composition: Pbx1^tm1Koss/Pbx1^tm1Koss,Pbx3^tm1Mlc/Pbx3⁺,Tg(Tcfap2a-cre)1Will/0 Genetic Background: involves: 129P2/OlaHsd Allelic Composition: Pbx1^tm1Mlc/Pbx1^tm1Mlc,Pbx2^tm1Mlc/Pbx2⁺ Genetic Background: involves: 129S6/SvEvTac Allelic Composition: Pbx1^tm1Mlc/Pbx1^tm1Mlc,Pbx3^tm1Mlc/Pbx3⁺ Genetic Background: involves: 129S6/SvEvTac Allelic Composition: Pbx1^tm1Mlc/Pbx1⁺,Wnt9b^tm1Amc/Wnt9b^tm1Amc,Foxg1^tm1(cre)Skm/Foxg1⁺ Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * 129X1/SvJ
MP:0005215	abnormal islet of Langerhans morphology	"anomalous morphology of these structures that are scattered throughout the pancreas and comprise its endocrine portion; within each islet there are three cell types: alpha, beta, and delta " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0005224	abnormal left-right axis symmetry of the somites	"anomaly in the formation or development of the somites in relation to the left and right sides of the body " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0005293	impaired glucose tolerance	"less than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin resistance; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ Allelic Composition: Pdx1^tm1Cvw/Pdx1⁺,Pbx1^tm1Mlc/Pbx1⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6
MP:0005296	abnormal humerus morphology	"malformation of the bone of the forelimb that articulates with the scapula above and the radius and ulna below" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Pbx1^tm1.1Koss/Pbx1^tm1.2Koss,Tmem163^{Tg(ACTB-cre)2Mrt}/0 Genetic Background: involves: 129P2/OlaHsd * FVB/N
MP:0005298	abnormal clavicle morphology	"malformation of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0005313	absent adrenal gland	"missing endocrine glands that are normally located above the kidney and responsible for hormone and epinepherine secretion" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:56651]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0005492	acinar hypoplasia	"decreased numbers of cells in the portion of the pancreas that secretes digestive enzymes " [J:48446, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
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: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0005651	abnormal gonad rudiment morphology	"absence or structural anomaly of the undifferentiated mesoderm that gives rise to the gonads" [llw2:Linda Washburn , Mouse Genome Informatics Curator]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0006043	decreased apoptosis	"less than normal cell death" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Pbx1^tm1Koss/Pbx1^tm1Koss,Pbx2^tm1Mlc/Pbx2^tm1Mlc,Foxg1^tm1(cre)Skm/Foxg1⁺ Genetic Background: involves: 129P2/OlaHsd * 129S/Sv
MP:0006338	abnormal second branchial arch morphology	"anomaly in the structure of the second arch which contributes to the development of the stapes, styloid process, hyoid bone, stylohyoid ligament, muscles of facial expression, stapedius muscle, stylohyoid muscle, and lining of the palatine tonsils" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0008023	abnormal styloid process morphology	"any structural abnormality in the slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone where it joins the tympanic portion; it gives attachment to the styloglossus, stylohyoid, and stylopharyngeus muscles and the stylohyoid and stylomandibular ligaments" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0008075	decreased CD4-positive T cell number	"reduced number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Socs3^tm1Jni/Socs3⁺ Genetic Background: B6.129P2-Socs3^tm1Jni
MP:0008079	decreased CD8-positive T cell number	"reduction in the number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Socs3^tm1Jni/Socs3⁺ Genetic Background: B6.129P2-Socs3^tm1Jni
MP:0008208	decreased pro-B cell number	"reduced number of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs" [CL:0000826, ISBN:0781735149, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺,Tg(Smad7-cre)1Sjc/0 Genetic Background: involves: 129S/Sv * C3HeB/FeJ
MP:0008209	decreased pre-B cell number	"reduced number of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface" [ISBN:0-8153-1691-7 "Immunobiology, The Immune System in Health and Disease", MGI:cwg "Carroll-Ann W. Goldsmith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺,Tg(Smad7-cre)1Sjc/0 Genetic Background: involves: 129S/Sv * C3HeB/FeJ
MP:0008211	decreased mature B cell number	"reduced number of the mature form of B cells, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex" [CL:0000785, ISBN:0781735149]	Show Allelic Composition: Socs3^tm1Jni/Socs3⁺ Genetic Background: B6.129P2-Socs3^tm1Jni
MP:0008249	abnormal common lymphocyte progenitor cell morphology	"any structural anomaly of a progenitor cell committed to the lymphoid lineage" [CL:0000051, PMID:10407577]	Show Allelic Composition: Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺,Tg(Smad7-cre)1Sjc/0 Genetic Background: involves: 129S/Sv * C3HeB/FeJ Allelic Composition: Pbx1^tm1Mlc/Pbx1^tm3.1Mlc,Tg(Mx1-cre)1Cgn/0 Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA
MP:0008294	abnormal zona fasciculata morphology	"any structural anomaly of the wide middle zone of the adrenal cortex that produces cortisol (hydrocortisone)" [MESH:A06.407.071.140.950]	Show Allelic Composition: Pbx1^tm1.1Febe/Pbx1^tm1.1Febe Genetic Background: involves: C57BL/6
MP:0008813	decreased common myeloid progenitor cell number	"reduced number of progenitor cells committed to myeloid lineage, including the megakaryocyte and erythroid lineages" [CL:0000049, MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺,Tg(Smad7-cre)1Sjc/0 Genetic Background: involves: 129S/Sv * C3HeB/FeJ
MP:0009173	absent pancreatic islets	"absence of the clusters of hormone-producing cells that are scattered throughout the pancreas" [MA:0000127, MESH:A03.734.414]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0009254	disorganized pancreatic islets	"derangement of the normal pattern of the hormone-producing cells within an islet; normally, the beta cells occupy the central portion of the islet and are surrounded by a corona of alpha and delta cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pdx1^tm1Cvw/Pdx1⁺,Pbx1^tm1Mlc/Pbx1⁺ Genetic Background: involves: 129S6/SvEvTac * C57BL/6
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: Ern1^tm1Rjk/Ern1^tm2.1Rjk,Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺ Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA
MP:0009902	abnormal lateral nasal prominence morphology	"any structural anomaly of the lateral area of the two branches of a horseshoe-shaped mesenchymal swelling in the future nasal region of the embryo; it separates the olfactory pit from the developing eye and the ala of the nose/snout develops from it" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Pbx1^tm1Mlc/Pbx1^tm1Mlc,Pbx2^tm1Mlc/Pbx2⁺ Genetic Background: involves: 129S6/SvEvTac
MP:0009903	abnormal medial nasal prominence morphology	"any structural anomaly of the central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the formation of half of the upper jaw, and the nasal tip and philtrum of the upper lip develop from it" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Pbx1^tm1Mlc/Pbx1^tm1Mlc,Pbx2^tm1Mlc/Pbx2⁺ Genetic Background: involves: 129S6/SvEvTac
MP:0009904	tongue hypoplasia	"underdevelopment of the tongue, usually due to a deficiency in the number of cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pbx1^tm1Mlc/Pbx1^tm1Mlc,Pbx2^tm1Mlc/Pbx2⁺ Genetic Background: involves: 129S6/SvEvTac Allelic Composition: Pbx1^tm1Mlc/Pbx1^tm1Mlc,Pbx3^tm1Mlc/Pbx3⁺ Genetic Background: involves: 129S6/SvEvTac
MP:0009914	abnormal hyoid bone lesser horn morphology	"any structural anomaly of shorter and more medial of the paired processes on either side of the hyoid bone" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0010788	stomach hypoplasia	"underdevelopment or reduced size, usually due to a reduced number of cells, of the stomach" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0010940	abnormal maxillary prominence morphology		Show Allelic Composition: Pbx1^tm1Mlc/Pbx1^tm1Mlc,Pbx2^tm1Mlc/Pbx2⁺ Genetic Background: involves: 129S6/SvEvTac
MP:0010982	abnormal ureteric bud elongation	"any anomaly in the process in which a ureteric bud grows along its axis" [GO:0060677]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0010984	abnormal metanephric mesenchyme morphology	"any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, in the developing metanephros; interactions between the ureteric bud and the metanephric mesenchyme leads to the initiation of outgrowth and repetitive branching of the UB that ultimately generates the definitive renal collecting system and induces formation of renal vesicles from the mesenchyme tissue" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:19828308]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0010987	abnormal nephrogenic mesenchyme morphogenesis	"any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, in the developing nephron" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0011085	complete postnatal lethality	"premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]	Show Allelic Composition: Pbx1^tm1Koss/Pbx1^tm1Koss,Pbx2^tm1Mlc/Pbx2⁺,H2afv^{Tg(Wnt1-cre)11Rth}/0 Genetic Background: involves: 129P2/OlaHsd * 129S/Sv * C57BL/6J * CBA/J
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: Pbx1^tm1Koss/Pbx1^tm1Koss,Pbx2^tm1Mlc/Pbx2⁺,Foxg1^tm1(cre)Skm/Foxg1⁺ Genetic Background: involves: 129P2/OlaHsd * 129S/Sv Allelic Composition: Pbx1^tm1Mlc/Pbx1⁺,Pbx2^tm1Mlc/Pbx2⁺,Pbx3^tm1Mlc/Pbx3⁺ Genetic Background: involves: 129S6/SvEvTac
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: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ Allelic Composition: Pbx1^tm1Mlc/Pbx1^tm2.1Mlc Genetic Background: involves: 129S6/SvEvTac
MP:0011263	abnormal spleen mesenchyme morphology	"any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing spleen" [ISBN:0-683-40008-8, MGI:csmith]	Show Allelic Composition: Pbx1^tm1Koss/Pbx1^tm1Koss,Nkx2-5^tm2(cre)Rph/Nkx2-5⁺ Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv Allelic Composition: Cdkn2b^tm1Bbd/Cdkn2b^tm1Bbd,Pbx1^tm1Koss/Pbx1^tm1Koss,Nkx2-5^tm2(cre)Rph/Nkx2-5⁺ Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv
MP:0011290	decreased nephron number	"reduction in the total number of filtering units of the kidney" [MGI:anna]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0011334	abnormal nephrogenic zone morphology	"any structural anomaly in the region found at the periphery of the developing metanephros within which the metanephric mesenchyme aggregates around the tips of the ureteric tree to form the nephrons; in rodents including mice, this region normally disappears within the first postnatal week when nephrogenesis ceases and only mature nephrons are present; in humans, it is lost by 36 weeks of gestation" [PMID:17452023]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0011364	abnormal metanephros morphology	"any structural anomaly of the primordium of the permanent kidney, which develops later than and caudal to the mesonephros, from the mesonephric duct and nephrogenic cord; the metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine" [GO:0001656]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0014101	decreased chondrocyte proliferation	"decreased amount of multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population" [GO:0035988]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0014107	premature chondrocyte differentiation	"early occurance of the process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte" [GO:0002062]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0030190	small snout	"decreased size of the anterior facial part of the face or muzzle containing the oral and nasal regions" [MGI:anna]	Show Allelic Composition: Ern1^tm1Rjk/Ern1^tm2.1Rjk,Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺ Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA Allelic Composition: Pbx1^tm1Mlc/Pbx1^tm1Mlc,Pbx2^tm1Mlc/Pbx2⁺ Genetic Background: involves: 129S6/SvEvTac Allelic Composition: Pbx1^tm1Mlc/Pbx1^tm1Mlc,Pbx3^tm1Mlc/Pbx3⁺ Genetic Background: involves: 129S6/SvEvTac
MP:0030297	outer ear hypoplasia	"underdevelopment or reduced size, usually due to a reduced number of cells, of all or part of the outer ear" [MGI:anna]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0030323	short styloid process	"length reduction or truncation of the slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone where it joins the tympanic portion; it gives attachment to the styloglossus, stylohyoid, and stylopharyngeus muscles and the stylohyoid and stylomandibular ligaments" [MGI:anna]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ
MP:0030465	absent oval window	"missing the oval opening on the medial wall of the tympanic cavity leading into the vestibule, close to the foot of the stapes" [MGI:anna]	Show Allelic Composition: Sox10^gt/Sox10⁺ Genetic Background: HYIII/LeJ

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSMUSG00000018973	Hoxb1 / P17919 / Homeobox protein Hox-B1 / P14653* / homeobox B1*	/ complex
ENSMUSG00000006705	O70477 / Pknox1 / Homeobox protein PKNOX1 / P55347* / PBX/knotted 1 homeobox 1*	/ complex
ENSMUSG00000020160	Meis1 / Q60954 / Homeobox protein Meis1 / O00470* / Meis homeobox 1*	/ complex
ENSMUSG00000100210	P84228 / Hist1h3f / Histone H3.2	/ complex
ENSMUSG00000099517	P68433 / Hist1h3g / Histone H3.1	/ complex
ENSMUSG00000060743	H3f3a / P84244 / Histone H3.3 / P84243* / H3 histone family member 3A*	/ complex
ENSMUSG00000060981	P62806 / Hist1h4h / Histone H4	/ complex

0 s.

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