Phenotypes Associated with This Genotype

Genotype
MGI:4437605

• Allelic Composition: Ext1^tm1Vcs/Ext1^tm1Vcs; Tg(Col2a1-rtTA,tetO-cre)22Pjro/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

neoplasm

increased osteochondroma incidence ( J:157599 )

• when doxycycline induction on double-mutants is performed from postnatal day 8 to P15 by introduction into drinking water, 4-, 6-, and 10-week old mice form multiple osteochondromas (in knees and ribs) with 100% penetrance

• when induction with doxycycline is achieved by intraperitoneal injection to lactating dams on P8, 100% of offspring exhibit osteochondromas

mortality/aging

prenatal lethality, incomplete penetrance ( J:157599 )

• with doxycycline induction of cre activity during gestation, only 1 pup was observed

• without doxycycline induction during gestation, viable offspring are generated at normal ratios

skeleton

increased osteochondroma incidence ( J:157599 )

• when doxycycline induction on double-mutants is performed from postnatal day 8 to P15 by introduction into drinking water, 4-, 6-, and 10-week old mice form multiple osteochondromas (in knees and ribs) with 100% penetrance

• when induction with doxycycline is achieved by intraperitoneal injection to lactating dams on P8, 100% of offspring exhibit osteochondromas

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary multiple exostoses		DOID:206	OMIM:133700 OMIM:133701 OMIM:600209	J:157599