Phenotypes Associated with This Genotype

Genotype
MGI:6157629

• Allelic Composition: Notch2^tm2.2Ecan/Notch2⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6J

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

skeleton

abnormal femur morphology ( J:246017 )

• femurs are smaller, with total area, bone area, and periosteal and endocortical perimeters reduced

short femur ( J:246017 )

♂ • males exhibit a small approximate 5% reduction in femoral length

decreased bone mineral density ( J:246017 )

• mice exhibit osteopenia

abnormal compact bone morphology ( J:246017 )

• mice exhibit a porous cortical bone

decreased compact bone volume ( J:246017 )

• decrease in femoral midshaft cortical bone volume

decreased compact bone thickness ( J:246017 )

• mice exhibit a thin cortical bone

abnormal trabecular bone morphology ( J:246017 )

decreased trabecular bone volume ( J:246017 )

• mice exhibit a 50% decrease in trabecular bone volume secondary to a reduced number and thickness of trabeculae

abnormal bone trabecula morphology ( J:246017 )

• connectivity density is lower and structure model index is higher, indicating prevelance of rod-like trabeculae

decreased bone trabecula number ( J:246017 )

increased bone trabecular spacing ( J:246017 )

• increase in trabecular separation

decreased trabecular bone connectivity density ( J:246017 )

decreased trabecular bone thickness ( J:246017 )

limbs/digits/tail

abnormal femur morphology ( J:246017 )

• femurs are smaller, with total area, bone area, and periosteal and endocortical perimeters reduced

short femur ( J:246017 )

♂ • males exhibit a small approximate 5% reduction in femoral length

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hajdu-Cheney syndrome		DOID:2736	OMIM:102500	J:246017