Phenotypes associated with this allele

• Allele Symbol: Pcolce^tm1Dgr
• Allele Name: targeted mutation 1, Daniel S Greenspan
• Allele ID: MGI:3612407
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pcolce^tm1Dgr/Pcolce^tm1Dgr	B6.129X1(BKSW)-Pcolce^tm1Dgr	MGI:6392246
hm2	Pcolce^tm1Dgr/Pcolce^tm1Dgr	involves: 129X1/SvJ * Black Swiss	MGI:3616195
cx3	Pcolce^tm1Dgr/Pcolce^tm1Dgr Rcc1l^m1Dgr/Rcc1l^m1Dgr	involves: 129X1/SvJ * Black Swiss * C57BL/6	MGI:6392243

Genotype
MGI:6392246

hm1

• Allelic Composition: Pcolce^tm1Dgr/Pcolce^tm1Dgr
• Genetic Background: B6.129X1(BKSW)-Pcolce^tm1Dgr

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

mortality/aging

mortality/aging ( J:254859 )

N • mice are born at a Mendelian ratio

Genotype
MGI:3616195

hm2

• Allelic Composition: Pcolce^tm1Dgr/Pcolce^tm1Dgr
• Genetic Background: involves: 129X1/SvJ * Black Swiss

skeleton

abnormal tendon morphology ( J:104148 )

• 100% of collagen fibrils in tendons have deranged morphologies

abnormal long bone morphology ( J:104148 )

• mechanical testing indicates inferior material properties of long bones in males, but not females, that is compensated for by adaptive changes in bone geometry, resulting in more massive long bones with increased resistance to loading

abnormal femur morphology ( J:104148 )

• male femora have a lower modulus than wild-type, suggesting inferior material properties of bone

• femurs of males exhibit abnormal collagen fibrils

abnormal bone structure ( J:104148 )

abnormal compact bone morphology ( J:104148 )

• cortical bone exhibits excess bone apposition on medial and lateral periosteum, with increased bending moment (anterior-posterior)

increased compact bone area ( J:104148 )

• males, but not females, exhibit an increase in the cross-sectional area of cortical bone

increased compact bone thickness ( J:104148 )

• males, but not females, exhibit an increase in the thickness of cortical bone

abnormal trabecular bone morphology ( J:104148 )

• male and female vertebrae compensate for inferior material properties with thickened and more numerous trabeculae and have an altered morphology in deposited mineral

abnormal skeleton physiology ( J:104148 )

• cortical bones of males exhibit an increase in bending moment and have significantly greater yield load and stiffness than controls, although no difference in the displacement ratio is seen

muscle

abnormal tendon morphology ( J:104148 )

• 100% of collagen fibrils in tendons have deranged morphologies

limbs/digits/tail

abnormal femur morphology ( J:104148 )

• male femora have a lower modulus than wild-type, suggesting inferior material properties of bone

• femurs of males exhibit abnormal collagen fibrils

Genotype
MGI:6392243

cx3

• Allelic Composition: Pcolce^tm1Dgr/Pcolce^tm1Dgr; Rcc1l^m1Dgr/Rcc1l^m1Dgr
• Genetic Background: involves: 129X1/SvJ * Black Swiss * C57BL/6

mortality/aging

embryonic lethality prior to organogenesis, complete penetrance ( J:254859 )

• all mice die by E9.5

embryo

abnormal trophectoderm morphology ( J:254859 )

• fibrin clotting in the trophoblast component of chorio-vitelline placenta at E7.5

decreased trophoblast giant cell number ( J:254859 )

• small and abnormal with small nuclei