AC T00677
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ID T00677
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DT 16.12.1992 (created); ewi.
DT 31.05.2010 (updated); ada.
CO Copyright (C), QIAGEN.
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FA Pax-1
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SY HuP48 (human); mPax-1; mPax1; Pax-1; PAX1.
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OS mouse, Mus musculus
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; rodentia; myomorpha; muridae; murinae
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GE G009198 Pax1.
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HO Pox meso, P29 (Drosophila).
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CL C0017; paired; 3.2.2.1.1.
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SF no homeo domain;
SF pI(calc) = 10.1;
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CP (embryo 8.5 days:) ventromedial part of somites, (embryo 9.5-10-5 days:) sclerotome cells, (embryo 12.5 days:) invertebral discs anlagen [6]; (embryo 14.5 days:) perichordal zone [3] [6]; (newborn:) ventral part of annulus fibrosus [6] [6] [3].
EX forelimb bud,,,Theiler Stage 17; detectable; RNA-in situ hybridization (not further specified); RNA (undefined); [9].
EX sclerotome,,,Theiler Stage 15; detectable; RNA-in situ hybridization (not further specified); RNA (undefined); [9].
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FF activator [1];
FF involved in control of embryogenesis [4];
FF oncogenic potential, depending on an intact paired domain [4];
FF mutations cause Undulated phenotype (alterations in the vertebral column, sternum, scapula, facial skeleton an thymus), e. g. G18S within the paired domain [5] [2];
FF Undulated mutations causes a decreasing DNA-binding affinity and changing sequence specificity or a reduced amount of Pax-1 transcript [5] [1];
FF Pax-1 deficient mice lack vertebral bodies, invertebral discs and proximal part of the ribs [6];
FF notochord and dorsal root ganglia do not develop normally in undulated mice [6];
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MX M00326 V$PAX1_B.
MX M00808 V$PAX_Q6.
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BS R02802.
BS R02803.
BS R02804.
BS R02805.
BS R02806.
BS R02807.
BS R02808.
BS R02230.
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DR TRANSPATH: MO000046033.
DR PATHODB: MT000034.
DR UniProtKB: P09084; PAX1_MOUSE.
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RN [1]; RE0002787.
RX PUBMED: 1889089.
RA Chalepakis G., Fritsch R., Fickenscher H., Deutsch U., Goulding M., Gruss P.
RT The molecular basis of the undulated/Pax-1 mutation
RL Cell 66:873-884 (1991).
RN [2]; RE0002788.
RX PUBMED: 3180219.
RA Balling R., Deutsch U., Gruss P.
RT undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1
RL Cell 55:531-535 (1988).
RN [3]; RE0002789.
RX PUBMED: 2453291.
RA Deutsch U., Dressler G. R., Gruss P.
RT Pax 1, a member of a paired box homologous murine gene family, is expressed in segmented structures during development
RL Cell 53:617-625 (1988).
RN [4]; RE0004244.
RX PUBMED: 8099544.
RA Maulbecker C. C., Gruss P.
RT The oncogenic potential of Pax genes
RL EMBO J. 12:2361-2367 (1993).
RN [5]; RE0014119.
RX PUBMED: 7875377.
RA Dietrich S., Gruss P.
RT undulated phenotypes suggest a role of Pax-1 for the development of vertebral and extravertebral structures
RL Dev. Biol. 167:529-548 (1995).
RN [6]; RE0014279.
RX PUBMED: 8026324.
RA Wallin J., Wilting J., Koseki H., Fritsch R., Christ B., Balling R.
RT The role of Pax-1 in axial skeleton development
RL Development 120:1109-1121 (1994).
RN [7]; RE0014283.
RX PUBMED: 7649395.
RA Neubueser A., Koseki H., Balling R.
RT Characterization and developmental expression of Pax9, a paired-box-containing gene related to Pax1
RL Dev. Biol. 170:701-716 (1995).
RN [8]; RE0014313.
RX PUBMED: 8625814.
RA Song D. L., Chalepakis G., Gruss P., Joyner A. L.
RT Two Pax-binding sites are required for early embryonic brain expression of an Engrailed-2 transgene
RL Development 122:627-635 (1996).
RN [9]; RE0013362.
RX PUBMED: 9256352.
RA Tribioli C., Frasch M., Lufkin T.
RT Bapx1: an evolutionary conserved homologue of the Drosophila bagpipe homeobox gene is expressed in splanchnic mesoderm and the embryonic skeleton
RL Mech. Dev. 65:145-162 (1997).
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