Symbol Name ID |
Evc2
EvC ciliary complex subunit 2 MGI:1915775 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Dandy-Walker malformation |
Genu valgum |
Clinodactyly of the 5th finger |
Postaxial hand polydactyly |
Cone-shaped epiphyses of phalanges 2 to 5 |
Overlapping fingers |
Postaxial foot polydactyly |
Brachydactyly |
Short palm |
Small hand |
Acetabular spurs |
Capitate-hamate fusion |
Short long bone |
Hypoplastic iliac wing |
Short ribs |
Horizontal ribs |
Pectus carinatum |
Narrow chest |
Disease(s) Associated with EVC2 | ||||||||||||||||||
Ellis-Van Creveld syndrome | ||||||||||||||||||
Weyers acrofacial dysostosis |
Mouse Phenotypes | skeleton phenotype |
impaired osteoblast differentiation |
abnormal basicranium morphology |
small cranium |
short lower incisors |
small upper incisors |
short upper incisors |
abnormal tooth development |
abnormal ameloblast morphology |
absent teeth |
short humerus |
short radius |
short ulna |
short femur |
short fibula |
short tibia |
abnormal long bone epiphyseal plate morphology |
abnormal long bone epiphyseal plate proliferative zone |
decreased width of hypertrophic chondrocyte zone |
short ribs |
decreased bone mineral content |
decreased trabecular bone volume |
abnormal chondrocyte physiology |
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Availability | Mouse Genotype | |||||||||||||||||||||||
Evc2em1(IMPC)Mbp/Evc2em1(IMPC)Mbp | ||||||||||||||||||||||||
Evc2tm1.1Mis/Evc2tm1.1Mis | ||||||||||||||||||||||||
Evc2tm1.1Vlrp/Evc2tm1.1Vlrp | ||||||||||||||||||||||||
Evc2tm2.1Mis/Evc2tm2.1Mis Tg(Col2a1-cre/ERT)KA3Smac/0 (conditional) |
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Evc2tm2.1Mis/Evc2tm2.1Mis Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0 (conditional) |
* | |||||||||||||||||||||||
Evc2tm2.1Mis/Evc2tm2.1Mis Tg(Mpz-cre)94Imeg/0 (conditional) |
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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last database update 09/03/2024 MGI 6.24 |
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