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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Sc5d
sterol-C5-desaturase
MGI:1353611
35 phenotypes from 3 alleles in 3 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Sc5db2b3462Clo/Sc5db2b3462Clo
C57BL/6J-Sc5db2b3462Clo 		abnormal limb morphology J:175213
absent kidney J:175213
heart right ventricle hypoplasia J:175213
micrognathia J:175213
syndactyly J:175213
Sc5dN224K/Sc5dN224K
B6.129-Sc5dN224K/Mmnc 		abnormal limb morphology J:94077
curly tail J:94077
perinatal lethality, complete penetrance J:94077
short limbs J:94077
syndactyly J:94077
Sc5dtm1Fdp/Sc5dtm1Fdp
involves: 129S1/Sv * 129X1/SvJ 		abnormal autopod morphology J:84450
abnormal brown adipose tissue morphology J:84450
abnormal cholesterol homeostasis J:84450
abnormal limb development J:84450
abnormal mandibular dental arch morphology J:84450
abnormal neurocranium morphology J:84450
abnormal pancreatic acinar cell zymogen granule morphology J:84450
abnormal phalanx morphology J:84450
atelectasis J:84450
bowed radius J:84450
bowed tibia J:84450
bowed ulna J:84450
cleft palate J:84450
decreased birth weight J:84450
decreased brain cholesterol level J:84450
decreased cholesterol level J:84450
decreased liver glycogen level J:84450
fetal growth retardation J:84450
increased liver weight J:84450
interparietal bone hypoplasia J:84450
kinked tail J:84450
lysosomal protein accumulation J:84450
mandible hypoplasia J:84450
micrognathia J:84450
narrow frontonasal prominence J:84450
perinatal lethality, complete penetrance J:84450
polydactyly J:84450
short limbs J:84450
skin edema J:84450
thin ribs J:84450
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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory