Phenotypes associated with this allele

• Allele Symbol: Hoxd10^tm1Mrc
• Allele Name: targeted mutation 1, Mario R Capecchi
• Allele ID: MGI:1857962
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hoxd10^tm1Mrc/Hoxd10^tm1Mrc	involves: 129S1/Sv * 129X1/SvJ	MGI:2178745
ht2	Hoxd10^tm1Mrc/Hoxd10^+	involves: 129S1/Sv * 129X1/SvJ	MGI:2178746
cx3	Hoxa10^tm1Mrc/Hoxa10^tm1Mrc Hoxc10^tm1Mrc/Hoxc10^tm1Mrc Hoxd10^tm1Mrc/Hoxd10^tm1Mrc	involves: 129S1/Sv * 129X1/SvJ	MGI:3844343
cx4	Hoxa10^tm1Mrc/Hoxa10^+ Hoxc10^tm1Mrc/Hoxc10^tm1Mrc Hoxd10^tm1Mrc/Hoxd10^tm1Mrc	involves: 129S1/Sv * 129X1/SvJ	MGI:3844344

Genotype
MGI:2178745

hm1

• Allelic Composition: Hoxd10^tm1Mrc/Hoxd10^tm1Mrc
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

skeleton

abnormal patella morphology ( J:44765 )

• position of patella shifted upward toward forward surface of femur, incomplete penetrance

• ectopic sesamoid bone embedded in patellar tendon at proximal edge of patella, incomplete penetrance

abnormal sacral vertebrae morphology ( J:44765 )

• alterations in the shape of the transverse processes

• first two sacral vertebrae (S1 and S2) articulated with the pelvis

abnormal joint morphology ( J:44765 )

• articulation between femur and tibia shifted out of alignment, rotating the tibia outward, incomplete penetrance

sacral vertebral fusion ( J:44765 )

• increased number of fused sacral vertebrae

behavior/neurological

abnormal stationary movement ( J:44765 )

• inability to bring hindlegs towards the ventral midline

abnormal gait ( J:44765 )

• incomplete penetrance and variable severity

reproductive system

abnormal male reproductive system physiology ( J:44765 )

♂ • males unable to copulate

limbs/digits/tail

abnormal patella morphology ( J:44765 )

• position of patella shifted upward toward forward surface of femur, incomplete penetrance

• ectopic sesamoid bone embedded in patellar tendon at proximal edge of patella, incomplete penetrance

nervous system

abnormal spinal nerve morphology ( J:44765 )

• decreased number of spinal segments projecting nerve fibers through sacral plexus to innervate musculature of hindlimbs

• decreased size and density of terminal arbors of tibial nerve

• peroneal nerve missing entirely, incomplete penetrance (~30%)

Genotype
MGI:2178746

ht2

• Allelic Composition: Hoxd10^tm1Mrc/Hoxd10⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

behavior/neurological

abnormal stationary movement ( J:44765 )

• inability to bring hindlegs towards the ventral midline

abnormal gait ( J:44765 )

• incomplete penetrance and variable severity

skeleton

abnormal vertebral transverse process morphology ( J:44765 )

• unilateral fusions of four transverse processes, incomplete penetrance

Genotype
MGI:3844343

cx3

• Allelic Composition: Hoxa10^tm1Mrc/Hoxa10^tm1Mrc; Hoxc10^tm1Mrc/Hoxc10^tm1Mrc; Hoxd10^tm1Mrc/Hoxd10^tm1Mrc
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

skeleton

skeleton phenotype ( J:84456 )

N • despite altered vertebral identity, the number of vertebrae is normal

absent deltoid tuberosity ( J:84456 )

short humerus ( J:84456 )

• moderate decrease in length

short femur ( J:84456 )

• greatly decreased length

absent patella ( J:84456 )

abnormal rib development ( J:124112 )

• ribs form on all 6 lumbar vertebrae and sacral vertebrae display rib-like processes

increased rib number ( J:84456 )

• rib processes protrude from each vertebral segment beyond T13 that would normally compose the lumbar and sacral regions

abnormal lumbar vertebrae morphology ( J:124112 )

• ribs form on all 6 lumbar vertebrae

• however, the shape of lumbar vertebral elements is normal

absent lumbar vertebrae ( J:84456 )

lumbar vertebral transformation ( J:84456 )

• lumbar and sacral vertebra adopt thoracic morphologies

• rib processes protrude from each vertebral segment beyond T13 that would normally compose the lumbar and sacral regions

abnormal sacral vertebrae morphology ( J:124112 )

• sacral vertebrae display rib-like processes

sacral vertebral transformation ( J:84456 )

• lumbar and sacral vertebra adopt thoracic morphologies

• rib processes protrude from each vertebral segment beyond T13 that would normally compose the lumbar and sacral regions

• however, the pseudosacrum forms

limbs/digits/tail

absent deltoid tuberosity ( J:84456 )

short humerus ( J:84456 )

• moderate decrease in length

short femur ( J:84456 )

• greatly decreased length

absent patella ( J:84456 )

Genotype
MGI:3844344

cx4

• Allelic Composition: Hoxa10^tm1Mrc/Hoxa10⁺; Hoxc10^tm1Mrc/Hoxc10^tm1Mrc; Hoxd10^tm1Mrc/Hoxd10^tm1Mrc
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

skeleton

increased rib number ( J:84456 )

• mice possess a fourteenth rib

abnormal sacral vertebrae morphology ( J:84456 )

limbs/digits/tail

abnormal forelimb stylopod morphology ( J:84456 )

• mice exhibit an intermediate stylopod morphology between wild-type mice and triple homozygotes

abnormal hindlimb stylopod morphology ( J:84456 )

• mice exhibit an intermediate stylopod morphology between wild-type mice and triple homozygotes