Phenotypes associated with this allele

• Allele Symbol: Rr383^tm1Caob
• Allele Name: targeted mutation 1, Charles A O'Brien
• Allele ID: MGI:3663313
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rr383^tm1Caob/Rr383^tm1Caob	B6.Cg-Rr383^tm1Caob	MGI:7439527
hm2	Rr383^tm1Caob/Rr383^tm1Caob	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3664244

Genotype
MGI:7439527

hm1

• Allelic Composition: Rr383^tm1Caob/Rr383^tm1Caob
• Genetic Background: B6.Cg-Rr383^tm1Caob

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

skeleton

decreased osteoclast cell number ( J:131132 )

• decreased osteoclast perimeter in vertebral bone at age 5 months

decreased osteoblast cell number ( J:131132 )

• decreased osteoblast perimeter in vertebral bone at age 5 months

increased bone trabecula number ( J:131132 )

• in vertebral bone at age 5 months

decreased bone trabecular spacing ( J:131132 )

• in vertebral bone at age 5 months

increased trabecular bone connectivity density ( J:131132 )

• in vertebral bone at age 5 months

increased bone mass ( J:131132 , J:131132 , J:131132 )

• across entire skeleton at ages 2 and 5 month (J:131132)

♀ • in spine at age 1 month (J:131132)

♂ • across entire skeleton at age 1 month (J:131132)

increased trabecular bone mass ( J:131132 )

• increased cancellous bone area in vertebral bone at age 5 months

abnormal skeleton development ( J:131132 )

• reduced bone formation rate in vertebral bone at age 5 months

• reduced bone activation frequency in vertebral bone at age 5 months

• normal cortical width in vertebral bone at age 5 months

decreased bone resorption ( J:131132 )

• reduced urinary DPD levels at age 5 months

increased vertebra maximal load ( J:131132 )

• increased compression strength of L6 vertebra at age 6 months

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:131132 )

N • normal calcium homeostasis and circulating osteocalcin levels at age 5 months

immune system

decreased osteoclast cell number ( J:131132 )

• decreased osteoclast perimeter in vertebral bone at age 5 months

hematopoietic system

decreased osteoclast cell number ( J:131132 )

• decreased osteoclast perimeter in vertebral bone at age 5 months

Genotype
MGI:3664244

hm2

• Allelic Composition: Rr383^tm1Caob/Rr383^tm1Caob
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

normal phenotype

no abnormal phenotype detected ( J:112132 )

• homozygotes are normal and show no osteopetrotic characteristics; cultured bone marrow cells show indistinguishable responses from wild-type cells to parathyroid hormone treatment.