Phenotypes associated with this allele

• Allele Symbol: Amer1^tm1.1Nbar
• Allele Name: targeted mutation 1.1, Nabeel Bardeesy
• Allele ID: MGI:5086003
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Ctnnb1^tm2Kem/Ctnnb1^+ Amer1^tm1.1Nbar/Y Tg(Prrx1-cre)1Cjt/0	involves: 129 * C57BL/6 * SJL	MGI:5086015
cn2	Amer1^tm1.1Nbar/Y Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0	involves: 129S4/SvJae * C57BL/6 * CD-1 * SJL	MGI:5086012
cn3	Amer1^tm1.1Nbar/Y Tg(BGLAP-cre)1Clem/0	involves: 129S4/SvJae * C57BL/6 * FVB/NJ * SJL	MGI:5086011
cn4	Amer1^tm1.1Nbar/Y Tg(Prrx1-cre)1Cjt/0	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:5086009
cn5	Amer1^tm1.1Nbar/Y Tg(Col2a1-cre)1Bhr/0	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:5086010

Genotype
MGI:5086015

cn1

• Allelic Composition: Ctnnb1^tm2Kem/Ctnnb1⁺; Amer1^tm1.1Nbar/Y; Tg(Prrx1-cre)1Cjt/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

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

skeleton

skeleton phenotype ( J:173242 )

♂N • suppression of bone abnormalities (malformation of the deltoid tuberosity and sternum and accumulation of cortical bone) seen in mutant mice wild-type for Ctnnb1

Genotype
MGI:5086012

cn2

• Allelic Composition: Amer1^tm1.1Nbar/Y; Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CD-1 * SJL

craniofacial

large fontanelles ( J:173242 )

skeleton

abnormal bone structure ( J:173242 )

♂

increased bone volume ( J:173242 )

♂

increased osteoblast cell number ( J:173242 )

♂ • increase in the osteoblast number relative to surface area

increased trabecular bone thickness ( J:173242 )

♂

osteosclerosis ( J:173242 )

♂

abnormal skeleton development ( J:173242 )

♂

large fontanelles ( J:173242 )

increased bone mineralization ( J:173242 )

♂ • increased mineralization of cortical and trabecular bone

♂ • increased in bone mineralized surface per bone surface

♂ • however, no increase in bone width is detected

delayed fontanelle closure ( J:173242 )

♂ • wide cranial fontanelles are persistent until birth

increased bone ossification ( J:173242 )

♂ • increased bone formation rate per tissue volume

Genotype
MGI:5086011

cn3

• Allelic Composition: Amer1^tm1.1Nbar/Y; Tg(BGLAP-cre)1Clem/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * FVB/NJ * SJL

skeleton

skeleton phenotype ( J:173242 )

♂N • no gross skeletal defects are detected

Genotype
MGI:5086009

cn4

• Allelic Composition: Amer1^tm1.1Nbar/Y; Tg(Prrx1-cre)1Cjt/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

skeleton

abnormal appendicular skeleton morphology ( J:173242 )

♂ • recapitulates appendicular skeletal phenotypes seen in germline null mice

abnormal long bone morphology ( J:173242 )

♂ • sharp reduction in the adipocyte content of long bones

abnormal deltoid tuberosity morphology ( J:173242 )

♂ • malformed

abnormal sternum morphology ( J:173242 )

♂

abnormal bone structure ( J:173242 )

♂

abnormal osteoblast differentiation ( J:173242 )

♂ • increase in the proportion of early osteoblastic cells in primary bone marrow derived mesenchymal progenitor cell cultures compared to wild-type cultures indicating enhanced early osteogenic commitment

♂ • decrease in the late differentiation of osteoblasts in primary bone marrow derived mesenchymal progenitor cell cultures

♂ • primary bone marrow derived mesenchymal progenitor cell cultures continue to produce osteogenic cells under adipogenic conditions

increased bone volume ( J:173242 )

♂

abnormal compact bone morphology ( J:173242 )

♂ • accumulation of cortical bone in adults

increased osteoblast cell number ( J:173242 )

♂ • increase in the osteoblast number relative to surface area

abnormal trabecular bone morphology ( J:173242 )

♂ • accumulation of trabecular bone in adults

increased trabecular bone thickness ( J:173242 )

♂

osteosclerosis ( J:173242 )

♂

delayed bone mineralization ( J:173242 )

♂ • increase in osteoid volume per bone volume indicates a delay in bone mineralization

increased bone mineralization ( J:173242 )

♂ • increase in bone mineralized surface per bone surface

abnormal sternum ossification ( J:173242 )

♂ • asymmetrical distribution of ossification centers

increased bone ossification ( J:173242 )

♂ • increased bone formation rate per tissue volume

adipose tissue

abnormal fat cell morphology ( J:173242 )

♂ • sharp reduction in the adipocyte content of long bones

abnormal fat cell differentiation ( J:173242 )

♂ • severely compromised formation of oil red O-positive adipocytes in primary bone marrow derived mesenchymal progenitor cell cultures

limbs/digits/tail

abnormal deltoid tuberosity morphology ( J:173242 )

♂ • malformed

cellular

abnormal fat cell differentiation ( J:173242 )

♂ • severely compromised formation of oil red O-positive adipocytes in primary bone marrow derived mesenchymal progenitor cell cultures

abnormal osteoblast differentiation ( J:173242 )

♂ • increase in the proportion of early osteoblastic cells in primary bone marrow derived mesenchymal progenitor cell cultures compared to wild-type cultures indicating enhanced early osteogenic commitment

♂ • decrease in the late differentiation of osteoblasts in primary bone marrow derived mesenchymal progenitor cell cultures

♂ • primary bone marrow derived mesenchymal progenitor cell cultures continue to produce osteogenic cells under adipogenic conditions

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteopathia striata with cranial sclerosis		DOID:0060886	OMIM:300373	J:173242

Genotype
MGI:5086010

cn5

• Allelic Composition: Amer1^tm1.1Nbar/Y; Tg(Col2a1-cre)1Bhr/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

skeleton

skeleton phenotype ( J:173242 )

♂N • no gross skeletal defects are detected