Phenotypes Associated with This Genotype

Genotype
MGI:6209558

• Allelic Composition: Spry2^tm1.1Mrt/Spry2⁺; Spry4^tm1.2Mrt/Spry4^tm1.2Mrt
• Genetic Background: involves: 129P2/OlaHsd

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

skeleton

abnormal skeleton morphology ( J:315670 )

• display ciliopathy-like limb long bone phenotypes

short tibia ( J:315670 )

• at E18.5

increased enchondroma incidence ( J:315670 )

• located in ossified central areas of ribs and in the distal zone of long limb bones adjacent to disarranged growth plate

increased osteochondroma incidence ( J:315670 )

• located in ossified central areas of ribs and in the distal zone of long limb bones adjacent to disarranged growth plate

abnormal chondrocyte morphology ( J:315670 )

• axoneme elongation is seen in primary cilia of prenatal tibial chondrocytes

limbs/digits/tail

abnormal autopod morphology ( J:315670 )

• defects in autopodium patterning

• display variable forms and combinations of forelimb abnormalities, including polydactyly, brachydactyly, and syndactyly

short tibia ( J:315670 )

• at E18.5

cellular

abnormal primary cilium morphology ( J:315670 )

• axoneme elongation is seen in prenatal tibial chondrocytes

neoplasm

increased enchondroma incidence ( J:315670 )

• located in ossified central areas of ribs and in the distal zone of long limb bones adjacent to disarranged growth plate

increased osteochondroma incidence ( J:315670 )

• located in ossified central areas of ribs and in the distal zone of long limb bones adjacent to disarranged growth plate

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ciliopathy		DOID:0060340		J:315670