Phenotypes associated with this allele

• Allele Symbol: Notch2^tm2.1Ecan
• Allele Name: targeted mutation 2.1, Ernesto Canalis
• Allele ID: MGI:6157622
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Notch2^tm2.1Ecan/Notch2^tm2.1Ecan	involves: C57BL/6J	MGI:6157628
cn2	Notch2^tm2.1Ecan/Notch2^tm2.1Ecan Lyz2^tm1(cre)Ifo/Lyz2^+	involves: 129P2/OlaHsd * C57BL/6J	MGI:6157644
cn3	Notch2^tm2.1Ecan/Notch2^tm2.1Ecan Lyz2^tm1(cre)Ifo/Lyz2^tm1(cre)Ifo	involves: 129P2/OlaHsd * C57BL/6J	MGI:6157647
cn4	Notch2^tm2.1Ecan/Notch2^tm2.1Ecan Tg(BGLAP-cre)1Clem/0	involves: C57BL/6J * FVB/NJ	MGI:6157651

Genotype
MGI:6157628

hm1

• Allelic Composition: Notch2^tm2.1Ecan/Notch2^tm2.1Ecan
• Genetic Background: involves: C57BL/6J

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

skeleton

skeleton phenotype ( J:246017 )

N • microarchitecture of the distal femur is normal at 1 month of age, with no differences in cancellous bone volume or cortical thickness compared to wild-type mice

Genotype
MGI:6157644

cn2

• Allelic Composition: Notch2^tm2.1Ecan/Notch2^tm2.1Ecan; Lyz2^tm1(cre)Ifo/Lyz2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

skeleton

skeleton phenotype ( J:246017 )

N • femoral microarchitecture is normal at 1 and 4 months of age and bone marrow-derived macrophage cultures form a similar number of osteoclasts in vitro as controls

Genotype
MGI:6157647

cn3

• Allelic Composition: Notch2^tm2.1Ecan/Notch2^tm2.1Ecan; Lyz2^tm1(cre)Ifo/Lyz2^tm1(cre)Ifo
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

skeleton

skeleton phenotype ( J:246017 )

N • femoral microarchitecture is normal at 1 and 4 months of age and bone marrow-derived macrophage cultures form a similar number of osteoclasts in vitro as controls

Genotype
MGI:6157651

cn4

• Allelic Composition: Notch2^tm2.1Ecan/Notch2^tm2.1Ecan; Tg(BGLAP-cre)1Clem/0
• Genetic Background: involves: C57BL/6J * FVB/NJ

skeleton

increased osteoclast cell number ( J:246017 )

• distal femurs exhibit an increase in osteoclast numbers

• however, the number of osteoblasts and bone formation rates are not different from controls

abnormal femur morphology ( J:246017 )

• distal femurs exhibit an increase in eroded surface

decreased bone mineral density ( J:246017 )

• cancellous and cortical bone osteopenia is seen in females, but not males, at 1 month of age

• a modest cortical osteopenia with cortical thinning and increased porosity is seen in both males and females at 4 months of age

abnormal compact bone morphology ( J:246017 )

• cortical bone porosity is increased in females at 1 and 4 months of age and in males at 4 months of age

decreased compact bone volume ( J:246017 )

• females exhibit decreased cortical bone volume in the femoral midshaft at 1 and 4 months of age, while males show a decrease at 4 months of age

decreased compact bone area ( J:246017 )

♀ • cortical bone area is decreased in 1 month old females

decreased compact bone thickness ( J:246017 )

• cortical bone thickness is decreased in females at 1 and 4 months of age and in males at 4 months of age

abnormal trabecular bone morphology ( J:246017 )

decreased trabecular bone volume ( J:246017 )

♀ • females exhibit decreased trabecular bone volume in the distal femur at 1 and 4 months of age, with 1 month old females showing an approximate 50% reduction in cancellous bone volume secondary to a reduced number of trabeculae and connectivity density

♀ • at 4 months of age, the skeletal phenotype of females is less pronounced, and cancellous bone volume/total volume is 30% lower than in controls

abnormal bone trabecula morphology ( J:246017 )

♀ • connectivity density is lower and structure model index is higher, indicating a prevalence of rod-like trabeculae over plate-like trabeculae

decreased bone trabecula number ( J:246017 )

♀ • females exhibit decreased trabecular number in the distal femur at 1 and 4 months of age

increased bone trabecular spacing ( J:246017 )

♀ • females exhibit increased trabecular separation in the distal femur at 1 and 4 months of age

decreased trabecular bone connectivity density ( J:246017 )

♀ • 1 month old females exhibit reduced connectivity density

decreased trabecular bone thickness ( J:246017 )

♀ • females exhibit decreased trabecular thickness in the distal femur at 4 months of age

decreased bone mineralization ( J:246017 )

• cortical bone shows suppressed endocortical mineral apposition rate

hematopoietic system

increased osteoclast cell number ( J:246017 )

• distal femurs exhibit an increase in osteoclast numbers

• however, the number of osteoblasts and bone formation rates are not different from controls

immune system

increased osteoclast cell number ( J:246017 )

• distal femurs exhibit an increase in osteoclast numbers

• however, the number of osteoblasts and bone formation rates are not different from controls

limbs/digits/tail

abnormal femur morphology ( J:246017 )

• distal femurs exhibit an increase in eroded surface

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