Dhcr7 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Dhcr7
7-dehydrocholesterol reductase
MGI:1298378

73 phenotypes from 6 alleles in 6 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Dhcr7^em1(IMPC)Mbp/Dhcr7⁺ C57BL/6N-Dhcr7^em1(IMPC)Mbp/MbpMmucd	abnormal kidney morphology	J:211773
	abnormal placenta morphology	J:211773
	abnormal placenta vasculature	J:211773
	abnormal spleen morphology	J:211773
	enlarged spleen	J:211773
	microphthalmia	J:211773
	small kidney	J:211773
Dhcr7^em1(IMPC)Mbp/Dhcr7^em1(IMPC)Mbp C57BL/6N-Dhcr7^em1(IMPC)Mbp/MbpMmucd	abnormal blood vessel morphology	J:211773
	abnormal placenta morphology	J:211773
	edema	J:211773
	embryonic growth retardation	J:211773
	microphthalmia	J:211773
	preweaning lethality, complete penetrance	J:211773
Dhcr7^tm1.1Sbpa/Dhcr7^tm1.1Sbpa Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺ B6.Cg-Dhcr7^tm1.1Sbpa Speer6-ps1^{Tg(Alb-cre)21Mgn}	abnormal bile composition	J:303316
	abnormal bile salt homeostasis	J:303316
	abnormal sterol level	J:303316
	decreased lean body mass	J:303316
	decreased liver cholesterol level	J:303316
	normal growth/size/body region phenotype	J:303316
	normal homeostasis/metabolism phenotype	J:303316
	increased bile salt level	J:303316
Dhcr7^tm1.2Sbpa/Dhcr7^tm1.2Sbpa B6(Cg)-Dhcr7^tm1.2Sbpa	neonatal lethality, complete penetrance	J:303316
Dhcr7^tm1Fdp/Dhcr7^tm1Fdp involves: 129S4/SvJae	abnormal brain development	J:165301
	abnormal cholesterol homeostasis	J:68084, J:165301
	abnormal glutamate-mediated receptor currents	J:68084
	abnormal nasal cavity morphology	J:68084
	abnormal suckling behavior	J:68084
	abnormal vocalization	J:68084
	absent gastric milk in neonates	J:68084
	aspiration	J:68084
	atelectasis	J:68084
	cyanosis	J:68084
	decreased birth weight	J:68084
	decreased brain size	J:68084
	decreased cholesterol level	J:68084
	decreased locomotor activity	J:68084
	distended urinary bladder	J:68084
	fetal growth retardation	J:68084
	neonatal lethality, complete penetrance	J:68084
	no swallowing reflex	J:68084
	palatal shelves fail to meet at midline	J:68084
	weakness	J:68084
Dhcr7^tm1Fdp/Dhcr7^tm2Fdp involves: 129S4/SvJae	abnormal cholesterol level	J:106758
	abnormal corpus callosum morphology	J:106758
	decreased brain size	J:106758
	decreased cholesterol level	J:106758
	dilated brain ventricle	J:106758
	dilated lateral ventricle	J:106758
	dilated third ventricle	J:106758
	embryonic lethality, incomplete penetrance	J:106758
	syndactyly	J:106758
Dhcr7^tm1Gst/Dhcr7^tm1Gst B6.129P2-Dhcr7^tm1Gst	abnormal breathing pattern	J:93296
	abnormal lung development	J:93296
	abnormal lung epithelium morphology	J:93296
	abnormal lung morphology	J:93296
	abnormal lung saccule morphology	J:93296
	abnormal lung vasculature morphology	J:93296
	abnormal pulmonary alveolus morphology	J:93296
	abnormal type I pneumocyte morphology	J:93296
	apnea	J:93296
	decreased birth body size	J:93296
	decreased lung cholesterol level	J:93296
	decreased lung weight	J:93296
	decreased pulmonary respiratory rate	J:93296
	decreased sterol level	J:93296
	fetal growth retardation	J:93296
	hypoxia	J:93296
	increased circulating corticosterone level	J:93296
	neonatal lethality, complete penetrance	J:93296
	no spontaneous movement	J:93296
	pulmonary hypoplasia	J:93296
	small lung	J:93296
Dhcr7^tm1Gst/Dhcr7^tm1Gst involves: 129P2/OlaHsd	abnormal cholesterol homeostasis	J:71611
	abnormal enzyme/coenzyme activity	J:71611
	abnormal enzyme/coenzyme level	J:71611
	abnormal lipid level	J:71611
	abnormal lung development	J:71611
	abnormal lung morphology	J:71611
	absent suckling reflex	J:71611
	cleft secondary palate	J:71611
	decreased birth weight	J:71611
	decreased brain cholesterol level	J:71611
	decreased liver cholesterol level	J:71611
	decreased locomotor activity	J:71611
	distended urinary bladder	J:71611
	impaired lung alveolus development	J:141730
	neonatal lethality, complete penetrance	J:71611, J:141730
	respiratory failure	J:71611
Dhcr7^tm2Fdp/Dhcr7^tm2Fdp involves: 129S4/SvJae	abnormal cholesterol level	J:106758
	decreased cholesterol level	J:106758
	dilated brain ventricle	J:106758
	dilated lateral ventricle	J:106758
	dilated third ventricle	J:106758

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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