C1galt1 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

C1galt1
core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1
MGI:2151071

37 phenotypes from 7 alleles in 6 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
C1galt1^{em1(IMPC)Hmgu}/C1galt1⁺ C57BL/6N-C1galt1^{em1(IMPC)Hmgu}/Ieg	increased circulating calcium level	J:211773
C1galt1^{em1(IMPC)Hmgu}/C1galt1^{em1(IMPC)Hmgu} C57BL/6N-C1galt1^{em1(IMPC)Hmgu}/Ieg	preweaning lethality, complete penetrance	J:211773
C1galt1^ptl1/C1galt1^ptl1 C57BL/6-C1galt1^ptl1	abnormal proximal convoluted tubule morphology	J:115272
	abnormal renal glomerular capsule morphology	J:115272
	abnormal renal glomerulus morphology	J:115272
	abnormal thrombopoiesis	J:115272
	albuminuria	J:115272
	decreased body weight	J:115272
	decreased renal glomerulus number	J:115272
	glomerulonephritis	J:115272
	increased blood urea nitrogen level	J:115272
	increased circulating creatinine level	J:115272
	increased mean platelet volume	J:115272
	increased urine protein level	J:115272
	kidney cortex atrophy	J:115272
	kidney inflammation	J:115272
	premature death	J:115272
	renal cast	J:115272
	thrombocytopenia	J:115272
C1galt1^tm1.1Rpmc/C1galt1^tm1.1Rpmc Tg(Zp3-cre)1Gwh/? involves: 129S1/Sv * 129S1/SvImJ * C57BL/6	abnormal angiogenesis	J:122012
	hemorrhage	J:122012
C1galt1^tm1.1Staka/C1galt1^tm1.2Staka Tg(Mx1-cre)1Cgn/0 involves: C57BL/6 * C57BL/6J * CBA * DBA/2	abnormal megakaryocyte differentiation	J:202276
	abnormal platelet morphology	J:202276
	giant platelets	J:202276
	normal hematopoietic system phenotype	J:202276
	increased bleeding time	J:202276
	thrombocytopenia	J:202276
C1galt1^tm1.2Rpmc/C1galt1^tm1.2Rpmc involves: 129S1/Sv * 129S1/SvImJ * C57BL/6	abnormal zona pellucida morphology	J:122012
	thin zona pellucida	J:122012
C1galt1^tm1.2Staka/C1galt1^tm1.2Staka involves: C57BL/6J * DBA/2	embryonic lethality, complete penetrance	J:202276
	hemorrhage	J:202276
C1galt1^tm1Rpmc/C1galt1^tm1Rpmc involves: 129S1/Sv * C57BL/6J	abnormal capillary morphology	J:96775
	abnormal vascular branching morphogenesis	J:96775
	abnormal vascular endothelial cell morphology	J:96775
	anemia	J:96775
	dilated capillary	J:96775
	intracranial hemorrhage	J:96775
	lethality throughout fetal growth and development, complete penetrance	J:96775
	spinal hemorrhage	J:96775

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