Phenotypes Associated with This Genotype

Genotype
MGI:5697977

• Allelic Composition: Evc2^tm1.1Mis/Evc2^tm1.1Mis
• Genetic Background: involves: 129X1/SvJ * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

growth/size/body

small upper incisors ( J:226455 )

• upper incisors were hypomorphic in the mutant mice

decreased body weight ( J:226455 )

• significantly less body weight than control littermates

slow postnatal weight gain ( J:226455 )

• at one week and six weeks after birth, mutant pups and mice show slower weight/length gain than controls

microcephaly ( J:226455 )

• at 4 weeks, surviving mutant mice have a smaller head

decreased body length ( J:226455 )

• at 4 weeks, surviving mutant mice have a smaller body length

disproportionate dwarf ( J:226455 )

• forelimbs and hindlimbs are disproportionally shorter compared to littermates

craniofacial

small cranium ( J:226455 )

• skull bones were smaller and less mineralized especially within the nasal and frontal bones

small upper incisors ( J:226455 )

• upper incisors were hypomorphic in the mutant mice

limbs/digits/tail

short humerus ( J:226455 )

• shorter appendicular bones in forearms

short radius ( J:226455 )

• shorter appendicular bones in forearms

short ulna ( J:226455 )

• shorter appendicular bones in forearms

short femur ( J:226455 )

• quantification on the length showed 15-30% decrease for each bone in both legs

short fibula ( J:226455 )

• quantification on the length showed 15-30% decrease for each bone in both legs

short tibia ( J:226455 )

• quantification on the length showed 15-30% decrease for each bone in both legs

short limbs ( J:226455 )

• at 4 weeks, surviving mutant mice have smaller arms and legs

mortality/aging

preweaning lethality, incomplete penetrance ( J:226455 )

• many of the mutant mice died before reaching weaning stage (~3 weeks after birth)

skeleton

small cranium ( J:226455 )

• skull bones were smaller and less mineralized especially within the nasal and frontal bones

small upper incisors ( J:226455 )

• upper incisors were hypomorphic in the mutant mice

short humerus ( J:226455 )

• shorter appendicular bones in forearms

short radius ( J:226455 )

• shorter appendicular bones in forearms

short ulna ( J:226455 )

• shorter appendicular bones in forearms

short femur ( J:226455 )

• quantification on the length showed 15-30% decrease for each bone in both legs

short fibula ( J:226455 )

• quantification on the length showed 15-30% decrease for each bone in both legs

short tibia ( J:226455 )

• quantification on the length showed 15-30% decrease for each bone in both legs

decreased bone mineral content ( J:226455 )

• skull bones were smaller and less mineralized especially within the nasal and frontal bones

decreased trabecular bone volume ( J:226455 )

• trabecular components of tibia and femur are reduced

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Ellis-Van Creveld syndrome		DOID:12714	OMIM:225500	J:226455