Symbol
Name
ID

Evc2
EvC ciliary complex subunit 2
MGI:1915775

Phenotype annotations related to skeleton

*	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

Availability

Mouse Genotype

Evc2^em1(IMPC)Mbp/Evc2^em1(IMPC)Mbp

Evc2^tm1.1Mis/Evc2^tm1.1Mis

Evc2^tm1.1Vlrp/Evc2^tm1.1Vlrp

Evc2^tm2.1Mis/Evc2^tm2.1Mis
Tg(Col2a1-cre/ERT)KA3Smac/0 (conditional)

Evc2^tm2.1Mis/Evc2^tm2.1Mis
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0 (conditional)

Evc2^tm2.1Mis/Evc2^tm2.1Mis
Tg(Mpz-cre)94Imeg/0 (conditional)

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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