MP:0000195 | hypocalcemia | "subnormal concentrations of calcium ions in the circulating blood " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8] |
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Allelic Composition: PhexHyp/Phex+ Genetic Background: C57BL/6J
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MP:0000562 | polydactyly | "greater than 5 digits on one or more autopods" [Stedman s Medical Dictionary:ISBN 0-683-40008-8] |
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Allelic Composition: PhexHyp/Phex+ Genetic Background: C57BL/6J
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MP:0000743 | muscle spasms | "muscular twitching, cramps and seizures ; frequently associated with calcium deficiency, hypoparathyroidism, vitamin D deficiency or alkalosis " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator] |
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Allelic Composition: PhexHyp/Phex+ Genetic Background: C57BL/6J
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MP:0000745 | tremors | "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8] |
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Allelic Composition: PhexHyp/Phex+ Genetic Background: C57BL/6J
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MP:0001059 | optic nerve atrophy | "wasting of 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] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm2Will,H2afvTg(Wnt1-cre)11Rth/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
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MP:0001192 | scaly skin | "skin covered with shedding scales or flakes" [J:65146] |
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Allelic Composition: PhexHyp/Phex+ Genetic Background: C57BL/6J
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MP:0001307 | fused cornea/lens | "condition in which the transparent anterior portion of the fibrous coat of the eye is joined to the transparent biconvex cellular refractive structure lying between the iris and vitreous humor of the eye" [Stedman s Medical Dictionary:ISBN 0-683-40008-8] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm2Will,H2afvTg(Wnt1-cre)11Rth/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
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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] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm2Will,H2afvTg(Wnt1-cre)11Rth/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
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MP:0001566 | hyperphosphatemia | "abnormally high concentrations of phosphates in the circulating blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8] |
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Allelic Composition: PhexHyp/Phex+ Genetic Background: C57BL/6J
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MP:0001732 | postnatal growth retardation | "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8] |
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Allelic Composition: PhexHyp/Phex+ Genetic Background: C57BL/6J
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MP:0001765 | abnormal ion homeostasis | "anomaly in the state of equilibrium in the body with respect to charged molecules in the fluids and tissues" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator] |
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Allelic Composition: PhexHyp/Phex+ Genetic Background: C57BL/6J
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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] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm2Will,H2afvTg(Wnt1-cre)11Rth/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
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MP:0002136 | abnormal kidney physiology | "altered ability or inability to excrete urine, not due to anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator] |
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Allelic Composition: PhexHyp/Phex+ Genetic Background: C57BL/6J
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MP:0002183 | gliosis | "increased growth pattern of neuroglia in a damaged area of the brain or spinal cord" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm2Will,H2afvTg(Wnt1-cre)11Rth/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
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MP:0002904 | increased circulating parathyroid hormone level | "greater than expected blood concentration of this regulator of calcium and phosphorous concentration" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator] |
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Allelic Composition: PhexHyp/Phex+ Genetic Background: C57BL/6J
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MP:0002986 | hypocalciuria | "excretion of abnormally low amounts of calcium in the urine" [J:83000] |
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Allelic Composition: PhexHyp/Phex+ Genetic Background: C57BL/6J
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MP:0002988 | decreased urine osmolarity | "reduction in the concentration of ions in the urine compared to normal" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:83000] |
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Allelic Composition: PhexHyp/Phex+ Genetic Background: C57BL/6J
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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] |
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Allelic Composition: PhexHyp/Phex+ Genetic Background: C57BL/6J
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MP:0003139 | patent ductus arteriosus | "failure of the fetal connection between the aorta and pulmonary artery to close within 24 hours after birth" [smb:Susan M Bello, Mouse Genome Informatics Curator] |
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Allelic Composition: Mrvi1tm2.1Jens/Mrvi1tm2.1Jens,Taglntm2(PRKG1*)Hfm/Taglntm2(PRKG1*)Hfm Genetic Background: involves: 129S1/Sv * 129X1/SvJ
Allelic Composition: Tfap2btm1Rbu/Tfap2b+ Genetic Background: involves: 129S1/Sv * 129X1/SvJ
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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] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm2Will,H2afvTg(Wnt1-cre)11Rth/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
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MP:0003675 | kidney cysts | "abnormal membranous sacs in any portion of the pair of organs responsible for urine secretion" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8] |
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Allelic Composition: PhexHyp/Phex+ Genetic Background: C57BL/6J
Allelic Composition: Tfap2btm1Rbu/Tfap2btm1Rbu Genetic Background: 129P2.129-Tfap2btm1Rbu
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MP:0004153 | increased renal tubule apoptosis | "increase in the number of renal tubule cells undergoing programmed cell death" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator] |
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Allelic Composition: PhexHyp/Phex+ Genetic Background: C57BL/6J
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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"] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm2Will,H2afvTg(Wnt1-cre)11Rth/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
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MP:0004283 | absent corneal endothelium | "absence of the single layer of large flattened cells that cover the surface of the cornea" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm2Will,H2afvTg(Wnt1-cre)11Rth/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
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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] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm2Will,H2afvTg(Wnt1-cre)11Rth/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
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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] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm2Will,H2afvTg(Wnt1-cre)11Rth/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
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MP:0005258 | ocular hypertension | "abnormal elevation of the intraocular pressure " [MeSH:National Library of Medicine - Medical Subject Headings , 2003] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm2Will,H2afvTg(Wnt1-cre)11Rth/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
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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] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm2Will,H2afvTg(Wnt1-cre)11Rth/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
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MP:0005497 | optic nerve cupping | "concave shape of the nerve often as a result of the force of pressure from glaucoma" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm2Will,H2afvTg(Wnt1-cre)11Rth/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
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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] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm2Will,H2afvTg(Wnt1-cre)11Rth/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
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MP:0005553 | increased circulating creatinine level | "greater than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission] |
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Allelic Composition: PhexHyp/Phex+ Genetic Background: C57BL/6J
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MP:0005565 | increased blood urea nitrogen level | "high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8] |
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Allelic Composition: PhexHyp/Phex+ Genetic Background: C57BL/6J
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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] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm2Will,H2afvTg(Wnt1-cre)11Rth/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
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MP:0006138 | congestive heart failure | "the heart is unable to adequately pump blood throughout the body" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator] |
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Allelic Composition: Mrvi1tm2.1Jens/Mrvi1tm2.1Jens,Taglntm2(PRKG1*)Hfm/Taglntm2(PRKG1*)Hfm Genetic Background: involves: 129S1/Sv * 129X1/SvJ
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MP:0006219 | optic nerve degeneration | "retrogressive pathologic change of the optic nerve" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm2Will,H2afvTg(Wnt1-cre)11Rth/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
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MP:0008067 | retinal ganglion cell degeneration | "degeneration or loss of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm2Will,H2afvTg(Wnt1-cre)11Rth/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
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MP:0008106 | decreased amacrine cell number | "reduction in the number of one of the three types of interneurons found in the inner nuclear layer of the mature retina" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm2Will,H2afvTg(Wnt1-cre)11Rth/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
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MP:0008513 | thin retinal inner plexiform layer | "reduced thickness of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm2Will,H2afvTg(Wnt1-cre)11Rth/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
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MP:0009050 | dilated proximal convoluted tubules | "stretched or widened aperture of the luminal space of the convoluted portion of the duct system of the nephron that extends from the renal glomerular capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm1Rbu Genetic Background: 129P2.129-Tfap2btm1Rbu
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MP:0009744 | postaxial polydactyly | "duplication of all or part of any of the rays except the first ray on one or more of the autopods" [PMID:19125433] |
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Allelic Composition: Mrvi1tm2.1Jens/Mrvi1tm2.1Jens,Taglntm2(PRKG1*)Hfm/Taglntm2(PRKG1*)Hfm Genetic Background: involves: 129S1/Sv * 129X1/SvJ
Allelic Composition: Tfap2btm1Rbu/Tfap2b+ Genetic Background: involves: 129S1/Sv * 129X1/SvJ
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MP:0009859 | eye opacity | "changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm2Will,H2afvTg(Wnt1-cre)11Rth/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
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MP:0010018 | lung vascular congestion | "obstruction of the normal flux of blood within the blood vessel network of the lung" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"] |
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Allelic Composition: Mrvi1tm2.1Jens/Mrvi1tm2.1Jens,Taglntm2(PRKG1*)Hfm/Taglntm2(PRKG1*)Hfm Genetic Background: involves: 129S1/Sv * 129X1/SvJ
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MP:0010252 | anterior subcapsular cataracts | "a lens opacity localized beneath the anterior lens capsule" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", ISBN:978-0-8493-0864-2 "Smith R.S. et al (ed.) Systematic Evaluation of the Mouse Eye: Anatomy, Pathology, and Biomethods"] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm2Will,H2afvTg(Wnt1-cre)11Rth/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
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MP:0010899 | abnormal pulmonary alveolar system morphology | |
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Allelic Composition: Mrvi1tm2.1Jens/Mrvi1tm2.1Jens,Taglntm2(PRKG1*)Hfm/Taglntm2(PRKG1*)Hfm Genetic Background: involves: 129S1/Sv * 129X1/SvJ
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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] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm1Rbu Genetic Background: 129P2.129-Tfap2btm1Rbu
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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] |
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Allelic Composition: PhexHyp/Phex+ Genetic Background: C57BL/6J
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MP:0011088 | partial neonatal 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 neonatal period after birth (Mus: P0)" [MGI:csmith] |
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Allelic Composition: Mrvi1tm2.1Jens/Mrvi1tm2.1Jens,Taglntm2(PRKG1*)Hfm/Taglntm2(PRKG1*)Hfm Genetic Background: involves: 129S1/Sv * 129X1/SvJ
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MP:0011368 | increased kidney apoptosis | "increase in the number of cells of the kidney undergoing programmed cell death" [MGI:anna] |
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Allelic Composition: PhexHyp/Phex+ Genetic Background: C57BL/6J
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MP:0011481 | anterior iris synechia | "adhesion of the iris to the cornea" [MGI:anna] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm2Will,H2afvTg(Wnt1-cre)11Rth/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
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MP:0011965 | decreased total retina thickness | "decreased width of the retina through the center plane" [MGI:csmith] |
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Allelic Composition: Tfap2btm1Rbu/Tfap2btm2Will,H2afvTg(Wnt1-cre)11Rth/0 Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
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