Manteia - Molecule gene

ENSMUSG00000038765

Mus musculus

Features

Gene ID:	ENSMUSG00000038765

Biological name :	Lmx1b

Synonyms :	LIM homeobox transcription factor 1 beta / Lmx1b

Possible biological names infered from orthology :	O60663

Species:	Mus musculus

Chr. number:	2
Strand:	-1
Band:	B
Gene start:	33560965
Gene end:	33640511

Corresponding Affymetrix probe sets:	10481835 (MoGene1.0st) 1421769_at (Mouse Genome 430 2.0 Array) 1441729_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000134944 Ensembl peptide - ENSMUSP00000043616 NCBI entrez gene - 16917 See in Manteia. MGI - MGI:1100513 RefSeq - NM_010725 RefSeq - XM_006497746 RefSeq - XM_006497747 RefSeq Peptide - NP_034855 swissprot - H3BJD7 swissprot - A0A0R4J0I7 Ensembl - ENSMUSG00000038765

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

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
lmx1ba	ENSDARG00000104815	Danio rerio
lmx1bb	ENSDARG00000068365	Danio rerio
LMX1B	ENSGALG00000040582	Gallus gallus
LMX1B	ENSG00000136944	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Lmx1a / Q9JKU8 / LIM homeobox transcription factor 1-alpha / Q8TE12*	ENSMUSG00000026686	69
Lhx1 / P63006 / LIM/homeobox protein Lhx1 / P48742* / LIM homeobox 1*	ENSMUSG00000018698	32
Lhx5 / P61375 / LIM homeobox protein 5 / Q9H2C1* / LIM homeobox 5*	ENSMUSG00000029595	31
Lhx3 / P50481 / LIM homeobox protein 3 / Q9UBR4* / LIM homeobox 3*	ENSMUSG00000026934	31
Isl2 / Q9CXV0 / Insulin enhancer protein ISL-2 / Q96A47* / ISL LIM homeobox 2*	ENSMUSG00000032318	30
Lhx4 / P53776 / LIM/homeobox protein Lhx4 / Q969G2* / LIM homeobox 4*	ENSMUSG00000026468	30
Isl1 / P61372 / Insulin enhancer protein ISL-1 / P61371* / ISL LIM homeobox 1*	ENSMUSG00000042258	27
Lhx9 / Q9WUH2 / LIM/homeobox protein Lhx9 / Q9NQ69* / LIM homeobox 9*	ENSMUSG00000019230	26
Lhx8 / O35652 / LIM/homeobox protein Lhx8 / Q68G74* / LIM homeobox 8*	ENSMUSG00000096225	26
Lhx6 / Q9R1R0 / Mus musculus LIM homeobox protein 6 (Lhx6), transcript variant 5, mRNA. / Q9UPM6* / LIM homeobox 6*	ENSMUSG00000026890	25
Lhx2 / Q9Z0S2 / LIM/homeobox protein Lhx2 / P50458* / LIM homeobox 2*	ENSMUSG00000000247	24
Lmo4 / P61969 / LIM domain transcription factor LMO4 / P61968* / LIM domain only 4*	ENSMUSG00000028266	17
Lmo1 / Q924W9 / Rhombotin-1 / P25800* / LIM domain only 1*	ENSMUSG00000036111	15
Lmo3 / Q8BZL8 / Mus musculus LIM domain only 3 (Lmo3), transcript variant 2, mRNA. / Q8TAP4* / LIM domain only 3*	ENSMUSG00000030226	14
Lmo2 / P25801 / Rhombotin-2 / P25791* / LIM domain only 2*	ENSMUSG00000032698	12

Protein motifs (from Interpro)

Interpro ID	Name
IPR001356	Homeobox domain
IPR001781	Zinc finger, LIM-type
IPR009057	Homeobox-like domain superfamily
IPR017970	Homeobox, conserved site

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0006355	regulation of transcription, DNA-templated	IEA
cellular_component	GO:0005634	nucleus	IEA
molecular_function	GO:0003677	DNA binding	IEA
molecular_function	GO:0003700	DNA-binding transcription factor activity	IEA
molecular_function	GO:0043565	sequence-specific DNA binding	IEA
molecular_function	GO:0046872	metal ion binding	IEA

Pathways (from Reactome)

Pathway description

No match

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000077	abnormal interparietal bone morphology	"malformed bone of the cranium; lies above and anterior to the occipital bone " [J:61509]	Show Allelic Composition: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J
MP:0000084	abnormal fontanelle morphology	"structural defect in the membranous interval at the margins of cranial bones in neonates" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]	Show Allelic Composition: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J
MP:0000164	abnormal cartilage development	"anomalous formation of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the throax, and tubular structures, but which also comprises most of the skeleton in early fetal life " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J
MP:0000574	abnormal foot pad morphology	"anomalous structure of the body of fat on the foot" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Gt(ROSA)26Sor^{tm1(CAG-Lmx1b,ALPP)Rjo}/Gt(ROSA)26Sor⁺,Tg(Prrx1-cre)1Cjt/0 Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL/J
MP:0000788	abnormal cerebral cortex morphology	"malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: involves: 129S7/SvEvBrd
MP:0000828	abnormal fourth ventricle morphology	"malformed or absent irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; it is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Ccr6^tm1.1Jmf/Ccr6^tm1.1Jmf Genetic Background: B6.129-Ccr6^tm1.1Jmf Allelic Composition: Lmx1a^dr-J/Lmx1a^dr-J,Lmx1b^tm1Rjo/Lmx1b^tm1Zfc,Tg(Lmx1a-cre)1Kjmi/0 Genetic Background: involves: 129S7/SvEvBrd * C3HeB/Fe * C57BL/6
MP:0000849	abnormal cerebellum morphology	"any malformation or absence of the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement and learning of motor skills" [J:50311, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: involves: 129S7/SvEvBrd Allelic Composition: Lmx1a^dr-J/Lmx1a^dr-J,Lmx1b^tm1Rjo/Lmx1b^tm1Zfc,Tg(Lmx1a-cre)1Kjmi/0 Genetic Background: involves: 129S7/SvEvBrd * C3HeB/Fe * C57BL/6
MP:0000850	absent cerebellum	"missing the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:19212, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Peg3^{tm1a(EUCOMM)Hmgu}/Peg3⁺ Genetic Background: involves: C57BL/6N
MP:0000852	small cerebellum	"reduced size of cerebellum" [MGI:CLS, J:17203, J:67524]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: involves: 129S7/SvEvBrd Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Zfc,H2afv^{Tg(Wnt1-cre)11Rth}/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA Allelic Composition: Lmx1a^dr-J/Lmx1a^dr-J,Lmx1b^tm1Rjo/Lmx1b^tm1Zfc,Tg(Lmx1a-cre)1Kjmi/0 Genetic Background: involves: 129S7/SvEvBrd * C3HeB/Fe * C57BL/6
MP:0000854	abnormal cerebellum development	"malformed or incomplete differentiation of the part of the metencephalon that lies dorsal to the pons and medulla behind the brain stem and controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Ccr6^tm1.1Jmf/Ccr6^tm1.1Jmf Genetic Background: B6.129-Ccr6^tm1.1Jmf
MP:0000904	abnormal superior colliculus	"dysmorphology or disorganization of the paired superior eminence of the mesencephalic tectum that is involved in auditory processing" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: involves: 129S7/SvEvBrd
MP:0000913	abnormal brain development	"malformed or incomplete differentiation of the brain" [MGI:cls, J:49840]	Show Allelic Composition: Ntrk1^tm1Apat/Ntrk1^tm1Apat Genetic Background: involves: 129S1/Sv
MP:0000939	reduced motor neuron number	"fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]	Show Allelic Composition: Lmx1a^tm1.1Tpe/Lmx1a^tm1.1Tpe Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J
MP:0000968	abnormal sensory neuron innervation	"defective or incomplete supply of nerve fibers to sensory termini or to spinal cord" [J:31622]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: involves: 129S7/SvEvBrd
MP:0001296	macrophthalmia	"increased average size of the eyes" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Mpl^tm1Fjs/Mpl^tm1Fjs Genetic Background: involves: 129 * C57BL/6J
MP:0001297	microphthalmia	"reduced average size of the eyes" [J:18048]	Show Allelic Composition: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: involves: 129S7/SvEvBrd Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,H2afv^{Tg(Wnt1-cre)11Rth}/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * CBA/J Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,Pitx2^tm4(cre)Jfm/Pitx2⁺ Genetic Background: involves: 129S7/SvEvBrd
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: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,Pitx2^tm4(cre)Jfm/Pitx2⁺ Genetic Background: involves: 129S7/SvEvBrd
MP:0001306	small lens	"reduced size of the transparent structure of the eye responsible for focusing light rays" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,Pitx2^tm4(cre)Jfm/Pitx2⁺ Genetic Background: involves: 129S7/SvEvBrd
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: Ntrk1^tm1Apat/Ntrk1^tm1Apat Genetic Background: involves: 129S1/Sv Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,H2afv^{Tg(Wnt1-cre)11Rth}/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * CBA/J Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,Pitx2^tm4(cre)Jfm/Pitx2⁺ Genetic Background: involves: 129S7/SvEvBrd Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,Tg(CAG-cre/Esr1)5Amc/0 Genetic Background:* involves: 129S7/SvEvBrd * C57BL/6 * CBA
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: Mpl^tm1Fjs/Mpl^tm1Fjs Genetic Background: involves: 129 * C57BL/6J Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,Pitx2^tm4(cre)Jfm/Pitx2⁺ Genetic Background: involves: 129S7/SvEvBrd Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,Tg(CAG-cre/Esr1)5Amc/0 Genetic Background:* involves: 129S7/SvEvBrd * C57BL/6 * CBA
MP:0001316	corneal scarring	"appearance of fibrous tissue on the cornea after healing in response to injury " [J:30249]	Show Allelic Composition: Mpl^tm1Fjs/Mpl^tm1Fjs Genetic Background: involves: 129 * C57BL/6J
MP:0001319	irregularly shaped pupil	"shape defects in the aperture of the iris through which light rays enter the eye, usually circular " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J Allelic Composition: Lmx1b^Icst/Lmx1b⁺ Genetic Background: involves: BALB/cAnN * C3H/HeN Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: involves: 129S7/SvEvBrd Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,H2afv^{Tg(Wnt1-cre)11Rth}/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * CBA/J Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,Pitx2^tm4(cre)Jfm/Pitx2⁺ Genetic Background: involves: 129S7/SvEvBrd
MP:0001322	abnormal iris morphology	"structural anomaly of the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Mpl^tm1Fjs/Mpl^tm1Fjs Genetic Background: involves: 129 * C57BL/6J
MP:0001330	abnormal optic nerve morphology	"malformation, misprojection or atrophy in the second cranial nerve which is responsible for conveying visual information from the retina to the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Mpl^tm1Fjs/Mpl^tm1Fjs Genetic Background: involves: 129 * C57BL/6J
MP:0001364	decreased anxiety-related response	"when compared to controls, subjects exhibit fewer responses thought to be indicative of anxiety in behavioral tests" [cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator, J:86626, J:85438, J:64043]	Show Allelic Composition: Pnmt^tm1(cre)Xbao/Pnmt^tm1(cre)Xbao Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0001375	abnormal mating preference	"deviation from the usual preference of a male to initiate sexual contact with a receptive female; usually refers to males that initiate sexual behavior with males and females indiscriminately" [J:76339]	Show Allelic Composition: Pnmt^tm1(cre)Xbao/Pnmt^tm1(cre)Xbao Genetic Background: involves: 129X1/SvJ * C57BL/6
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: Casp3^m1Bha/Casp3^m1Bha Genetic Background: involves: BALB/c * C3H/HeH
MP:0001405	impaired coordination	"reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Lmx1a^tm1Tpe/Lmx1a^tm1Tpe,Lmx1b^tm1Zfc/Lmx1b^tm1Zfc,Slc6a3^tm1(cre)Lrsn/Slc6a3⁺ Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6
MP:0001436	abnormal suckling behavior	"reduced ability or inability to exert suction by the mouth, or atypical suckling pattern" [J:16461]	Show Allelic Composition: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J
MP:0001469	abnormal contextual conditioning	"defect in the ability of an animal to learn and remember an association between an an aversive experience (the unconditioned stimulus (US), ususally a shock) and a neutral stimulus (the conditioned stimulus (CS), or the environmental context in this case)" [CFG:Center for Functional Genomics , Northwestern University]	Show Allelic Composition: Pnmt^tm1(cre)Xbao/Pnmt^tm1(cre)Xbao Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0001898	abnormal long term depression	"change from the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of neurons" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Principles of Neural Science:ISBN 0-8385-8034-3]	Show Allelic Composition: Pnmt^tm1(cre)Xbao/Pnmt^tm1(cre)Xbao Genetic Background: involves: 129X1/SvJ * C57BL/6
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: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J
MP:0002092	abnormal eye morphology	"abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Mpl^tm1Fjs/Mpl^tm1Fjs Genetic Background: involves: 129 * C57BL/6J
MP:0002135	abnormal kidney morphology	"abnormal development of the kidney resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Peg3^{tm1a(EUCOMM)Hmgu}/Peg3⁺ Genetic Background: involves: C57BL/6N
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: Ednrb^s-4Blec/Ednrb^s-4Blec Genetic Background: involves: 101/Rl * C3H/Rl Allelic Composition: Lmx1b^tm1Bbs/? Genetic Background: involves: 129 * C57BL/6
MP:0002184	abnormal innervation	"the malformation, misprojection or malfunction of the connection of nerve fibers with a target" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Lmx1a^tm1Tpe/Lmx1a^tm1Tpe,Lmx1b^tm1Zfc/Lmx1b^tm1Zfc,Slc6a3^tm1(cre)Lrsn/Slc6a3⁺ Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6
MP:0002207	abnormal long term potentiation	"alterations in a persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Pnmt^tm1(cre)Xbao/Pnmt^tm1(cre)Xbao Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0002229	CNS neurodegeneration	"a retrogressive impairment of function or destruction of neural tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Lmx1a^tm1Tpe/Lmx1a^tm1Tpe,Lmx1b^tm1Zfc/Lmx1b^tm1Zfc,Slc6a3^tm1(cre)Lrsn/Slc6a3⁺ Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6 Allelic Composition: Lmx1a^tm1Tpe/Lmx1a^tm1Tpe,Lmx1b^tm1Zfc/Lmx1b^tm1Zfc,Tg(Slc6a3-cre/ERT2)1Span/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6
MP:0002705	dilated renal tubules	"enlarged lumens of the loops of Henle and/or collecting ducts of the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Eya1^tm1Rilm/Eya1⁺,Pax2^tm1Pgr/Pax2⁺ Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,Tg(CAG-cre/Esr1)5Amc/0 Genetic Background:* involves: 129S7/SvEvBrd * C57BL/6 * CBA
MP:0002800	abnormal short-term recognition memory	"defects in the short-term memory for objects is established during the first few minutes after training" [CFG:Center for Functional Genomics , Northwestern University]	Show Allelic Composition: Lmx1a^tm1Tpe/Lmx1a^tm1Tpe,Lmx1b^tm1Zfc/Lmx1b^tm1Zfc,Slc6a3^tm1(cre)Lrsn/Slc6a3⁺ Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6
MP:0002835	abnormal cranial suture morphology	"defects of the fibrous joint in the bones of the head" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:62161]	Show Allelic Composition: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J
MP:0002871	albuminuria	"presence of excess albumin in the urine" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Lmx1b^tm4.1Rjo/Lmx1b^tm4.1Rjo,Tg(NPHS2-cre)295Lbh/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL
MP:0002882	abnormal neuron	"anomaly in the functional cells of the nervous system that receive, conduct, and transmit impulses " [MeSH:National Library of Medicine - Medical Subject Headings, 2003]	Show Allelic Composition: Ocln^tm1Sts/Ocln^tm1Sts Genetic Background: involves: 129S4/SvJae * C57BL/6
MP:0002892	reduced size of superior colliculus	"decreased size of the paired superior eminence of the mesencephalic tectum" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: involves: 129S7/SvEvBrd
MP:0002932	abnormal joint	"defect in the articulation point of two or more bones" [RGD:Rat Genome Database submission, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Gt(ROSA)26Sor^{tm1(CAG-Lmx1b,ALPP)Rjo}/Gt(ROSA)26Sor⁺,Tg(Prrx1-cre)1Cjt/0 Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL/J
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: Pdpk1^tm1.1Mlw/Pdpk1^tm1.1Mlw,Tg(Ckmm-cre)5Khn/? Genetic Background: involves: BALB/c
MP:0003008	enhanced long term potentiation	"greater than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells " [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3, J:81922]	Show Allelic Composition: Lmx1a^tm1Tpe/Lmx1a^tm1Tpe,Lmx1b^tm1Zfc/Lmx1b^tm1Zfc,Slc6a3^tm1(cre)Lrsn/Slc6a3⁺ Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6
MP:0003073	abnormal metacarpal bone morphology	"anomaly in the five bones of the forepaws that articulate proximally with the carpal bones and distally with the phlanges" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, Anatomy of the Rat:Greene, EC, Hafner Publishing Co, 1935]	Show Allelic Composition: Gt(ROSA)26Sor^{tm1(CAG-Lmx1b,ALPP)Rjo}/Gt(ROSA)26Sor⁺,Tg(Prrx1-cre)1Cjt/0 Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL/J Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Zfc,Tg(Prrx1-cre)1Cjt/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * SJL/J
MP:0003172	abnormal lysosome physiology	"ability of lysosomes to produce enzymes necessary for digestion of exogenous material is impaired" [llw2:Linda Washburn , Mouse Genome Informatics Curator]	Show Allelic Composition: Lmx1a^tm1Tpe/Lmx1a^tm1Tpe,Lmx1b^tm1Zfc/Lmx1b^tm1Zfc,Slc6a3^tm1(cre)Lrsn/Slc6a3⁺ Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6
MP:0003237	abnormal lens epithelium morphology	"malformation in the one or more of the layers of epithelial cells in the lens" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93301]	Show Allelic Composition: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: involves: 129S7/SvEvBrd Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,H2afv^{Tg(Wnt1-cre)11Rth}/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * CBA/J Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,Pitx2^tm4(cre)Jfm/Pitx2⁺ Genetic Background: involves: 129S7/SvEvBrd
MP:0003243	abnormal dopaminergic neuron morphology	"malformation or absence of the neurons that utilize dopamine as a neurotransmitter " [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]	Show Allelic Composition: Lmx1a^tm1.1Tpe/Lmx1a^tm1.1Tpe Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J
MP:0003606	kidney failure	"cessation of renal function" [ncbi:Matthew Mailman, NCBI request]	Show Allelic Composition: Lmx1b^tm4.1Rjo/Lmx1b^tm4.1Rjo,Tg(NPHS2-cre)295Lbh/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,Tg(CAG-cre/Esr1)5Amc/0 Genetic Background:* involves: 129S7/SvEvBrd * C57BL/6 * CBA
MP:0003687	abnormal intraocular muscle morphology	"malformation of the smooth muscles within the eye" [smb:Susan M Bello, Mouse Genome Informatics Curator, ncbi:Matthew Mailman, NCBI request]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,Pitx2^tm4(cre)Jfm/Pitx2⁺ Genetic Background: involves: 129S7/SvEvBrd
MP:0003877	abnormal serotonergic neuron morphology	"malformation or absence of the neurons that secrete serotonin" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:54240]	Show Allelic Composition: Pnmt^tm1(cre)Xbao/Pnmt^tm1(cre)Xbao Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0003990	decreased neurotransmitter release	"reduced secretion of endogenous signaling molecules normally secreted by neurons that alter the behavior of neurons or effector cells" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Pnmt^tm1(cre)Xbao/Pnmt^tm1(cre)Xbao Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0004096	abnormal midbrain-hindbrain boundary development	"anomaly in the formation of the midbrain-hindbrain domain, comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages; an organizing center at the boundary patterns the midbrain and hindbrain primordia of the neural plate" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: involves: 129S7/SvEvBrd
MP:0004221	abnormal iridocorneal angle	"any structural abnormality of the acute angle occurring between the iris and the cornea at the periphery of the anterior chamber of the eye" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Lmx1b^Icst/Lmx1b⁺ Genetic Background: involves: BALB/cAnN * C3H/HeN Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,Pitx2^tm4(cre)Jfm/Pitx2⁺ Genetic Background: involves: 129S7/SvEvBrd
MP:0004224	absent trabecular meshwork	"absence of the pore-like structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates" [MESH:A09.371.060.932, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,Pitx2^tm4(cre)Jfm/Pitx2⁺ Genetic Background: involves: 129S7/SvEvBrd
MP:0004284	abnormal Descemet membrane	"any structural abnormality in the transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea, considered to be a highly developed basement membrane" [MESH:A09.371.060.217.271, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Lmx1b^Icst/Lmx1b⁺ Genetic Background: involves: BALB/cAnN * C3H/HeN
MP:0004343	small scapula	"reduced size of 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: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J
MP:0004360	absent ulna	"missing the medial and larger of the two bones of the forearm" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J
MP:0004443	absent supraoccipital bone	"absence of the bone on the dorsal side of the great foramen of the skull, usually forming a part of the occipital in the adult, but distinct in the young" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J
MP:0004508	abnormal shoulder bone morphology	"any structural anomaly of the bones of the shoulder by which the limbs attach to the axial skeleton " [MGI:cwg "Carroll-Ann W. Goldsmith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J
MP:0004688	absent ilium	"absence of the broad, flaring portion of the hip bone, which is distinct at birth, but later fuses with the ischium and the pubis " [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J
MP:0004694	absent patella	"absence of the large sesamoid bone that covers the anterior surface of the knee" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Zfc,Tg(Prrx1-cre)1Cjt/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * SJL/J
MP:0004792	abnormal synaptic vesicle number	"anomaly in the number of the small, membrane bound sacs that contain various neurotransmitter molecules that are concentrated at pre-synaptic membranes and release the neurotransmitters by fusion of these vesicles with the presynaptic membrane, followed by exocytosis of their contents" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Lmx1a^tm1Tpe/Lmx1a^tm1Tpe,Lmx1b^tm1Zfc/Lmx1b^tm1Zfc,Slc6a3^tm1(cre)Lrsn/Slc6a3⁺ Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6
MP:0004861	abnormal Raphe nucleus morphology	"any structural anomaly of the subgroup of the reticular nuclei of the brain stem that are located in and along the median plane of the medulla oblongata, pons, and mesencephalon that include neurons that synthesize serotonin and extend ascending fibers to parts of the limbic system and descending fibers to other brain stem nuclei, the medulla oblongata, and the pons" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pnmt^tm1(cre)Xbao/Pnmt^tm1(cre)Xbao Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0004981	decreased neuronal precursor cell number	"reduced number of the neuroblast embryonic cells that develop into nerve cells or neurons" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Lmx1a^tm1.1Tpe/Lmx1a^tm1.1Tpe Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J
MP:0005058	abnormal lysosome morphology	"anomalous structure of any of the cytoplasmic, membrane bound vesicles that contain a variety of hydrolases" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Lmx1a^tm1Tpe/Lmx1a^tm1Tpe,Lmx1b^tm1Zfc/Lmx1b^tm1Zfc,Slc6a3^tm1(cre)Lrsn/Slc6a3⁺ Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6
MP:0005099	abnormal ciliary body morphology	"structural anomaly of the thickened portion of the vascular tunic, which lies between the choroid and the iris" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J
MP:0005193	abnormal anterior eye segment morphology	"anomalous structure of any of the parts of the eye that lie in front of, or ventral to, the lens (inclusive) " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J
MP:0005202	lethargy	"mild impairment of consciousness resulting in reduced alertness and awareness; ultimately due to generalized brain dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,Tg(CAG-cre/Esr1)5Amc/0 Genetic Background:* involves: 129S7/SvEvBrd * C57BL/6 * CBA
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: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: involves: 129S7/SvEvBrd Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,H2afv^{Tg(Wnt1-cre)11Rth}/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * CBA/J
MP:0005208	abnormal iris stroma morphology	"structural anomaly of the lamellated connective tissue of the iris" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J
MP:0005258	ocular hypertension	"abnormal elevation of the intraocular pressure " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Lmx1b^Icst/Lmx1b⁺ Genetic Background: involves: BALB/cAnN * C3H/HeN
MP:0005264	glomerulosclerosis	"hyaline deposits or scarring within the renal glomeruli, often occurring with renal arteriosclerosis or diabetes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Eya1^tm1Rilm/Eya1⁺,Pax2^tm1Pgr/Pax2⁺ Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
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: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J
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: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: involves: 129S7/SvEvBrd Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,H2afv^{Tg(Wnt1-cre)11Rth}/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * CBA/J
MP:0005301	abnormal corneal endothelium morphology	"anomalous structure of the single layer of large flattened cells that cover the surface of the cornea" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Lmx1b^Icst/Lmx1b⁺ Genetic Background: involves: BALB/cAnN * C3H/HeN Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,Pitx2^tm4(cre)Jfm/Pitx2⁺ Genetic Background: involves: 129S7/SvEvBrd
MP:0005325	abnormal glomerulus	"anomalous structure of the capillary loops of the kidney that normally function as a filtration unit" [J:57971, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Pdpk1^tm1.1Mlw/Pdpk1^tm1.1Mlw,Tg(Ckmm-cre)5Khn/? Genetic Background: involves: BALB/c Allelic Composition: Lmx1b^Icst/Lmx1b⁺ Genetic Background: involves: BALB/cAnN * C3H/HeN Allelic Composition: Lmx1b^tm4.1Rjo/Lmx1b^tm4.1Rjo,Tg(NPHS2-cre)295Lbh/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL
MP:0005326	abnormal podocytes	"anomalous structure of the foot processes of the epithelial cells of the glomerulus" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:57971]	Show Allelic Composition: Pdpk1^tm1.1Mlw/Pdpk1^tm1.1Mlw,Tg(Ckmm-cre)5Khn/? Genetic Background: involves: BALB/c Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: Not Specified Allelic Composition: Lmx1b^Icst/Lmx1b^Icst Genetic Background: involves: BALB/cAnN * C3H/HeN
MP:0005503	abnormal tendon morphology	"structural anomaly of the fibrous bands or cords of connective tissue at the ends of muscle fibers that attach muscles to bones and other structures" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:45509]	Show Allelic Composition: Gt(ROSA)26Sor^{tm1(CAG-Lmx1b,ALPP)Rjo}/Gt(ROSA)26Sor⁺,Tg(Prrx1-cre)1Cjt/0 Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL/J
MP:0005508	abnormal skeleton morphology	"malformation of the bony framework of the body in vertebrates" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Gt(ROSA)26Sor^{tm1(CAG-Lmx1b,ALPP)Rjo}/Gt(ROSA)26Sor⁺,Tg(Prrx1-cre)1Cjt/0 Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL/J
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: Lmx1b^Icst/Lmx1b⁺ Genetic Background: involves: BALB/cAnN * C3H/HeN Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: involves: 129S7/SvEvBrd Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,H2afv^{Tg(Wnt1-cre)11Rth}/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * CBA/J Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,Tg(CAG-cre/Esr1)5Amc/0 Genetic Background:* involves: 129S7/SvEvBrd * C57BL/6 * CBA
MP:0005643	decreased dopamine level	"less than the normal concentration of this catecholamine neurotransmitter, dervied from tyrosine and the precursor to norepinephrine and epinephrine" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:88298]	Show Allelic Composition: Lmx1a^tm1Tpe/Lmx1a^tm1Tpe,Lmx1b^tm1Zfc/Lmx1b^tm1Zfc,Slc6a3^tm1(cre)Lrsn/Slc6a3⁺ Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6 Allelic Composition: Lmx1a^tm1Tpe/Lmx1a^tm1Tpe,Lmx1b^tm1Zfc/Lmx1b^tm1Zfc,Tg(Slc6a3-cre/ERT2)1Span/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6
MP:0006000	abnormal corneal epithelium	"malformation in the one or more of the layers of epithelial cells covering the front of the cornea" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,Tg(CAG-cre/Esr1)5Amc/0 Genetic Background:* involves: 129S7/SvEvBrd * C57BL/6 * CBA
MP:0006104	abnormal tectum morphology	"any structural alterations or malfunction of the rostral part of the midbrain roof" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, smb:Susan M Bello, Mouse Genome Informatics Curator, J:65762]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: involves: 129S7/SvEvBrd
MP:0006105	reduced tectum size	"reduced size of the rostral part of the midbrain roof" [smb:Susan M Bello, Mouse Genome Informatics Curator, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:65410]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: involves: 129S7/SvEvBrd Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Zfc,H2afv^{Tg(Wnt1-cre)11Rth}/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA
MP:0006226	iris hypoplasia	"less than the normal number of cells in the iris" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,Pitx2^tm4(cre)Jfm/Pitx2⁺ Genetic Background: involves: 129S7/SvEvBrd
MP:0006230	iris stroma hypoplasia	"less than the normal number of cells in the iris stroma" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: involves: 129S7/SvEvBrd Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,H2afv^{Tg(Wnt1-cre)11Rth}/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * CBA/J
MP:0006279	abnormal limb development	"anomaly in the formation of the limbs" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Ednrb^s-4Blec/Ednrb^s-4Blec Genetic Background: involves: 101/Rl * C3H/Rl
MP:0008059	abnormal podocyte foot process morphology	"any structural anomaly of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: Not Specified Allelic Composition: Lmx1b^tm4.1Rjo/Lmx1b^tm4.1Rjo,Tg(NPHS2-cre)295Lbh/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL
MP:0008061	absent podocyte slit diaphragm	"absence of the thin membrane that covers the podocyte filtration slit which allows small molecules such as water, glucose, and ionic salts to pass through while retaining larger macromolecules in the bloodstream" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pdpk1^tm1.1Mlw/Pdpk1^tm1.1Mlw,Tg(Ckmm-cre)5Khn/? Genetic Background: involves: BALB/c Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: Not Specified Allelic Composition: Lmx1b^tm4.1Rjo/Lmx1b^tm4.1Rjo,Tg(NPHS2-cre)295Lbh/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL
MP:0008138	absent podocyte foot process	"absence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Pdpk1^tm1.1Mlw/Pdpk1^tm1.1Mlw,Tg(Ckmm-cre)5Khn/? Genetic Background: involves: BALB/c
MP:0008140	podocyte foot process effacement	"thinning of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Lmx1b^tm4.1Rjo/Lmx1b^tm4.1Rjo,Tg(NPHS2-cre)295Lbh/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL
MP:0008260	abnormal autophagy	"abnormal catabolic process involving the degradation of a cell s own components through the lysosomal machinery" [MGI:honda "Hiraoki Onda, Mouse Genome Informatics Curator"]	Show Allelic Composition: Lmx1a^tm1Tpe/Lmx1a^tm1Tpe,Lmx1b^tm1Zfc/Lmx1b^tm1Zfc,Slc6a3^tm1(cre)Lrsn/Slc6a3⁺ Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6
MP:0008432	abnormal long-term spatial reference memory	"anomaly in long-term memory for spatial location information that is consolidated over hours and days after training or an encounter at that location" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pnmt^tm1(cre)Xbao/Pnmt^tm1(cre)Xbao Genetic Background: involves: 129X1/SvJ * C57BL/6
MP:0008494	absence of all nails	"absence of all of the horny plates covering the dorsal surface of the distal end of each terminal phalanx of the digits" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J
MP:0008544	impaired olfaction	"reduced ability to detect odors" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Lmx1a^tm1Tpe/Lmx1a^tm1Tpe,Lmx1b^tm1Zfc/Lmx1b^tm1Zfc,Slc6a3^tm1(cre)Lrsn/Slc6a3⁺ Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6
MP:0008571	abnormal synaptic bouton morphology	"any structural anomaly of the knoblike enlargements along the course of axons, or more commonly at the distal terminations of axons which are specialized for the release of neurotransmitters" [MESH:A08.663.542.145.750]	Show Allelic Composition: Lmx1a^tm1Tpe/Lmx1a^tm1Tpe,Lmx1b^tm1Zfc/Lmx1b^tm1Zfc,Slc6a3^tm1(cre)Lrsn/Slc6a3⁺ Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6 Allelic Composition: Lmx1a^tm1Tpe/Lmx1a^tm1Tpe,Lmx1b^tm1Zfc/Lmx1b^tm1Zfc,Tg(Slc6a3-cre/ERT2)1Span/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6
MP:0008762	embryonic lethality	"death of an animal in the embryonic period (Mus: up to E14)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Lmx1a^tm1.1Tpe/Lmx1a^tm1.1Tpe Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J
MP:0008947	increased neuron number	"greater than normal numbers of the cells of the nervous system that receive, conduct, and transmit impulses" [MESH:A08.663]	Show Allelic Composition: Lmx1a^tm1.1Tpe/Lmx1a^tm1.1Tpe Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J
MP:0009274	buphthalmos	"abnormal enlargement of the eye that is usually congenital and attended by symptoms of glaucoma" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Lmx1b^Icst/Lmx1b⁺ Genetic Background: involves: BALB/cAnN * C3H/HeN
MP:0009538	abnormal synapse morphology	"any strucutral anomaly of the membrane junction site of a nerve cell to a target cell, such as another nerve cell, an effector cell, or a sensory receptor cell; transmission of nerve impulses may be mediated by chemical or by electrical means" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A08.850]	Show Allelic Composition: Lmx1a^tm1Tpe/Lmx1a^tm1Tpe,Lmx1b^tm1Zfc/Lmx1b^tm1Zfc,Slc6a3^tm1(cre)Lrsn/Slc6a3⁺ Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6
MP:0009637	abnormal pretectal region morphology	"any structural anomaly of a narrow, transversely oriented rostral zone of the mesencephalic tectum, bounded caudally by the superior colliculus, rostrally by the habenular trigone, and laterally by the pulvinar thalami; the pretectal area contains several nuclei that receive fibers from the optic tract; it has bilateral efferent connections with the Edinger-Westphal nucleus of the oculomotor nuclear complex by way of which it mediates the pupillary light reflex" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: involves: 129S7/SvEvBrd
MP:0009641	kidney degeneration	"a retrogressive impairment of function or destruction of either or both of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,Tg(CAG-cre/Esr1)5Amc/0 Genetic Background:* involves: 129S7/SvEvBrd * C57BL/6 * CBA
MP:0009825	cornea ulcer	"an area of tissue erosion in the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Lmx1b^Icst/Lmx1b⁺ Genetic Background: involves: BALB/cAnN * C3H/HeN
MP:0010070	decreased serotonin concentration	"reduction in the amount per unit of biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Mylk3^tm1Jtst/Mylk3⁺ Genetic Background: involves: 129S/SvEv * C57BL/6
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: Lmx1b^tm4.1Rjo/Lmx1b^tm4.1Rjo,Tg(NPHS2-cre)295Lbh/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL
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: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J
MP:0011089	complete perinatal lethality	"death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]	Show Allelic Composition: Lmx1b^Icst/Lmx1b^Icst Genetic Background: involves: BALB/cAnN * C3H/HeN
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: Lmx1b^Icst/Lmx1b⁺ Genetic Background: involves: BALB/cAnN * C3H/HeN
MP:0011320	abnormal glomerular capillary morphology	"any structural anomaly of the small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus" [MGI:csmith]	Show Allelic Composition: Pdpk1^tm1.1Mlw/Pdpk1^tm1.1Mlw,Tg(Ckmm-cre)5Khn/? Genetic Background: involves: BALB/c
MP:0011348	abnormal renal glomerulus basement membrane morphology	"any structural anomaly of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter" [MGI:anna]	Show Allelic Composition: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: involves: C57BL/6
MP:0011402	renal cast	"any of the various casts formed from gelled protein precipitated in the distal convoluted tubules and collecting ducts of nephrons and molded to the tubular or duct lumen which dislodge and pass into the urine; types named for their constituent material include acellular casts (e.g. granular, hyaline, waxy, or fatty casts) and cellular casts (e.g. red or white blood cell casts)" [MGI:anna]	Show Allelic Composition: Lmx1b^tm4.1Rjo/Lmx1b^tm4.1Rjo,Tg(NPHS2-cre)295Lbh/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL
MP:0011409	increased renal glomerulus basement membrane thickness	"increased width of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule" [MGI:anna]	Show Allelic Composition: Fgf18^tm1Dor/Fgf18^tm1Dor Genetic Background: involves: 129X1/SvJ * C57BL/6J Allelic Composition: Lmx1b^tm4.1Rjo/Lmx1b^tm4.1Rjo,Tg(NPHS2-cre)295Lbh/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL
MP:0011448	decreased dopaminergic neuron number	"fewer than normal numbers of the neurons that utilize dopamine as a neurotransmitter" [MGI:smb]	Show Allelic Composition: Lmx1a^tm1.1Tpe/Lmx1a^tm1.1Tpe Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J Allelic Composition: Lmx1a^tm1Ics/Lmx1a^tm1Ics,Lmx1b^tm1Rjo/Lmx1b⁺ Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J
MP:0011453	abnormal glomerular capillary endothelium morphology	"any structural anomaly of the thin, extremely flattened layer of cells that line the interior surface of glomerular capillaries and is densely perforated by large transcellular pores (aka fenestrae or fenestrations) that, unlike those of other fenestrated capillaries, are generally thought to lack diaphragms" [MGI:anna]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: involves: C57BL/6
MP:0011455	absent glomerular endothelium fenestra	"absence of the large plasma membrane-lined circular pores that normally perforate the flattened glomerular endothelium; loss of fenestrae may lead to a reduction in the glomerular filtration rate or proteinuria" [MGI:anna]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: involves: C57BL/6
MP:0011481	anterior iris synechia	"adhesion of the iris to the cornea" [MGI:anna]	Show Allelic Composition: Lmx1b^Icst/Lmx1b⁺ Genetic Background: involves: BALB/cAnN * C3H/HeN
MP:0011483	renal glomerular synechia	"presence of adhesions (synechiae) between the Bowman s capsule and the glomerular tuft; may develop when areas of glomerular capillary basement membrane denuded of visceral epithelial cells come in contact with the parietal epithelium of Bowman s capsule" [MGI:anna]	Show Allelic Composition: Lmx1b^tm4.1Rjo/Lmx1b^tm4.1Rjo,Tg(NPHS2-cre)295Lbh/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL
MP:0012000	abnormal limb position	"anomaly in the location of the limbs on the body relative to other body parts or axes" [MGI:csmith]	Show Allelic Composition: Lmx1b^Icst/Lmx1b^Icst Genetic Background: involves: BALB/cAnN * C3H/HeN
MP:0012133	absent midbrain-hindbrain boundary	"absence of the midbrain-hindbrain domain of the embryonic brain that is comprised of the mesencephalic vesicle and the first rhombencephalic vesicle at early somitogenesis stages; normally, an organizing center located at the boundary patterns the midbrain and hindbrain primordia of the neural plate" [MGI:anna]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: involves: 129S7/SvEvBrd
MP:0012785	decreased rhombomere 1 size	"reduced size of the first transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order with the first rhombomere arising next to the midbrain-hindbrain boundary, or isthmus" [MGI:anna]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: involves: 129S7/SvEvBrd
MP:0013742	absent ciliary body	"absence of the thickened portion of the vascular tunic, which lies between the choroid and the iris" [ISBN:0-683-40008-8, MGI:Anna]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,Pitx2^tm4(cre)Jfm/Pitx2⁺ Genetic Background: involves: 129S7/SvEvBrd
MP:0013743	ciliary body hypoplasia	"underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris" [ISBN:0-683-40008-8, MGI:Anna]	Show Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Rjo Genetic Background: involves: 129S7/SvEvBrd Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo,H2afv^{Tg(Wnt1-cre)11Rth}/0 Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * CBA/J
MP:0020351	decreased vocalization	"decrease in the production of vocal sound" [ORCID: orcid.org/0000-0003-4606-0597, PMID:26621702]	Show Allelic Composition: Pnmt^tm1(cre)Xbao/Pnmt^tm1(cre)Xbao Genetic Background: involves: 129X1/SvJ * C57BL/6

Interacting proteins (from Reactome)

Interactor ID

Name

Interaction type

No match

1 s.

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