Pcsk5 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Pcsk5
proprotein convertase subtilisin/kexin type 5
MGI:97515

81 phenotypes from 7 alleles in 9 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Meox2^tm1(cre)Sor/Meox2⁺ Pcsk5^tm2Prat/Pcsk5^tm2.1Prat involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ	abnormal heart morphology	J:136243
	abnormal palate morphology	J:136243
	abnormal skeleton morphology	J:136243
	abnormal spinal cord morphology	J:136243
	abnormal vertebral column morphology	J:136243
	absent kidney	J:136243
	absent tail	J:136243
	atrial septal defect	J:136243
	dextrocardia	J:136243
	double outlet right ventricle	J:136243
	omphalocele	J:136243
	pulmonary hypoplasia	J:136243
	right aortic arch	J:136243
	short hindlimb	J:136243
	short tail	J:136243
	tracheoesophageal fistula	J:136243
	transposition of great arteries	J:136243
	vascular ring	J:136243
	ventricular septal defect	J:136243
Meox2^tm1(cre)Sor/0 Pcsk5^tm2Prat/Pcsk5^tm2.1Prat involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * SJL	abnormal sternocostal joint morphology	J:134264
	absent kidney	J:134264
	absent tail	J:134264
	asymmetric sternocostal joints	J:134264
	atelectasis	J:134264
	decreased body size	J:134264
	delayed bone ossification	J:134264
	hemorrhage	J:134264
	herniated intestine	J:134264
	increased rib number	J:134264
	neonatal lethality, complete penetrance	J:134264
	respiratory failure	J:134264
	short tail	J:134264
	vertebral transformation	J:134264
Pcsk5^b2b585Clo/Pcsk5^b2b585Clo C57BL/6J-Pcsk5^b2b585Clo	abnormal limb morphology	J:175213
	absent kidney	J:175213
	absent tail	J:175213
	anal atresia	J:175213
	dextrocardia	J:175213
	double aortic arch	J:175213
	double outlet right ventricle	J:175213
	increased rib number	J:175213
	mesocardia	J:175213
	persistent truncus arteriosus	J:175213
	polydactyly	J:175213
	syndactyly	J:175213
	tracheoesophageal fistula	J:175213
Pcsk5^b2b1549Clo/Pcsk5^b2b1549Clo C57BL/6J-Pcsk5^b2b1549Clo	abnormal respiratory motile cilium physiology	J:175213
	complete atrioventricular septal defect	J:175213
	d-loop transposition of the great arteries	J:175213
	dextrocardia	J:175213
	double outlet right ventricle with atrioventricular septal defect	J:175213
	heterotaxia	J:175213
	immotile respiratory cilia	J:175213
	mesocardia	J:175213
Pcsk5^tm1.1Prat/Pcsk5^tm1.1Prat B6.129(Cg)-Pcsk5^tm1.1Prat	embryonic lethality between implantation and somite formation, complete penetrance	J:104195
Pcsk5^{tm1b(KOMP)Mbp}/Pcsk5⁺ C57BL/6N-Pcsk5^{tm1b(KOMP)Mbp}/J	decreased circulating calcium level	J:211773
	decreased circulating cholesterol level	J:211773
	decreased circulating HDL cholesterol level	J:211773
	hyperactivity	J:211773
	increased bone mineral content	J:211773
	increased fasting circulating glucose level	J:211773
	increased heart weight	J:211773
	increased lean body mass	J:211773
Pcsk5^{tm1b(KOMP)Mbp}/Pcsk5^{tm1b(KOMP)Mbp} C57BL/6N-Pcsk5^{tm1b(KOMP)Mbp}/J	abnormal body wall morphology	J:211773
	abnormal embryo size	J:211773
	abnormal facial morphology	J:211773
	abnormal limb bud morphology	J:211773
	abnormal limb morphology	J:211773
	abnormal neural tube closure	J:211773
	abnormal tail morphology	J:211773
	cleft palate	J:211773
	embryonic growth retardation	J:211773
	hemorrhage	J:211773
	preweaning lethality, complete penetrance	J:211773
Pcsk5^tm2.1Prat/Pcsk5^tm2.1Prat involves: 129 * C57BL/6 * SJL	embryonic lethality, complete penetrance	J:134264
Pcsk5^tm2.1Prat/Pcsk5^vcc involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	abnormal hindlimb morphology	J:136243
	abnormal palate morphology	J:136243
	abnormal spinal cord morphology	J:136243
	abnormal vertebral column morphology	J:136243
	absent kidney	J:136243
	absent tail	J:136243
	atrial septal defect	J:136243
	dextrocardia	J:136243
	double outlet right ventricle	J:136243
	omphalocele	J:136243
	persistent truncus arteriosus	J:136243
	pulmonary hypoplasia	J:136243
	tracheoesophageal fistula	J:136243
	vascular ring	J:136243
	ventricular septal defect	J:136243
Pcsk5^vcc/Pcsk5^vcc involves: C57BL/6J	abnormal autopod morphology	J:136243
	abnormal femur morphology	J:136243
	abnormal forelimb morphology	J:136243
	abnormal heart morphology	J:136243
	abnormal palate morphology	J:136243
	abnormal pelvic girdle bone morphology	J:136243
	abnormal rectum morphology	J:136243
	abnormal spinal cord morphology	J:136243
	abnormal thymus lobule morphology	J:136243
	abnormal tibia morphology	J:136243
	abnormal urinary bladder morphology	J:136243
	abnormal vertebral column morphology	J:136243
	absent anus	J:136243
	absent caudal vertebrae	J:136243
	absent fibula	J:136243
	absent kidney	J:136243
	absent patella	J:136243
	absent sacral vertebrae	J:136243
	absent tail	J:136243
	absent xiphoid process	J:136243
	atrial septal defect	J:136243
	dextrocardia	J:136243
	double outlet right ventricle	J:136243
	increased rib number	J:136243
	increased thoracic vertebrae number	J:136243
	omphalocele	J:136243
	patent ductus arteriosus	J:136243
	persistent truncus arteriosus	J:136243
	pulmonary hypoplasia	J:136243
	right aortic arch	J:136243
	short hindlimb	J:136243
	small lung	J:136243
	small thymus	J:136243
	tracheoesophageal fistula	J:136243
	vascular ring	J:136243
	ventricular septal defect	J:136243

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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