Phenotypes associated with this allele

• Allele Symbol: Hoxd9^tm1Ipc
• Allele Name: targeted mutation 1, I Pierre Chambon
• Allele ID: MGI:2150414
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hoxd9^tm1Ipc/Hoxd9^tm1Ipc	either: 129/Sv-Hoxd9^tm1Ipc or (involves: 129/Sv * 129S2/SvPas * C57BL/6)	MGI:3844447
ht2	Hoxd9^tm1Ipc/Hoxd9^+	either: 129/Sv-Hoxd9^tm1Ipc or (involves: 129/Sv * 129S2/SvPas * C57BL/6)	MGI:3844449
cx3	Hoxa9^tm1Ipc/Hoxa9^tm1Ipc Hoxd9^tm1Ipc/Hoxd9^tm1Ipc	involves: 129/Sv * 129S2/SvPas * C57BL/6	MGI:3844451
cx4	Hoxa9^tm1Ipc/Hoxa9^+ Hoxd9^tm1Ipc/Hoxd9^+	involves: 129/Sv * 129S2/SvPas * C57BL/6	MGI:3844452
cx5	Hoxa9^tm1Ipc/Hoxa9^+ Hoxd9^tm1Ipc/Hoxd9^tm1Ipc	involves: 129/Sv * 129S2/SvPas * C57BL/6	MGI:3844454
cx6	Hoxa9^tm1Ipc/Hoxa9^tm1Ipc Hoxd9^tm1Ipc/Hoxd9^+	involves: 129/Sv * 129S2/SvPas * C57BL/6	MGI:3844456

Genotype
MGI:3844447

hm1

• Allelic Composition: Hoxd9^tm1Ipc/Hoxd9^tm1Ipc
• Genetic Background: either: 129/Sv-Hoxd9^tm1Ipc or (involves: 129/Sv * 129S2/SvPas * C57BL/6)

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

skeleton

abnormal deltoid tuberosity morphology ( J:31476 )

• underdeveloped

short humerus ( J:31476 )

• 8% to 10% reduction of the proximodistal length

caudal vertebral transformation ( J:31476 )

• some mice exhibit anteriorization of Ca1 to an S4 morphology

lumbar vertebral transformation ( J:31476 )

• 85% of mice exhibit anteriorization of lumbar vertebrae 23, 24, and 25

• however, mice possess normal L1, L2, and L6

abnormal sacral vertebrae morphology ( J:31476 )

• the sacral region is decreased in size compared to in wild-type mice

sacral vertebral fusion ( J:31476 )

• 95% of mice exhibit a fusion of vertebrae 30 and 29

sacral vertebral transformation ( J:31476 )

• 30% of mice exhibit anteriorization of some sacral vertebrae (27 and 28)

• however, S1 never exhibits anteriorization

limbs/digits/tail

abnormal deltoid tuberosity morphology ( J:31476 )

• underdeveloped

short humerus ( J:31476 )

• 8% to 10% reduction of the proximodistal length

caudal vertebral transformation ( J:31476 )

• some mice exhibit anteriorization of Ca1 to an S4 morphology

Genotype
MGI:3844449

ht2

• Allelic Composition: Hoxd9^tm1Ipc/Hoxd9⁺
• Genetic Background: either: 129/Sv-Hoxd9^tm1Ipc or (involves: 129/Sv * 129S2/SvPas * C57BL/6)

skeleton

lumbar vertebral transformation ( J:31476 )

• 50% of mice exhibit left-sided unilateral or bilateral partial anteriorization of vertebrae 23 through 25

sacral vertebral fusion ( J:31476 )

• 40% of mice exhibit fusion of vertebrae 29 and 30

Genotype
MGI:3844451

cx3

• Allelic Composition: Hoxa9^tm1Ipc/Hoxa9^tm1Ipc; Hoxd9^tm1Ipc/Hoxd9^tm1Ipc
• Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6

reproductive system

reduced female fertility ( J:31476 )

♀ • 5 out of 11 females are sterile

decreased litter size ( J:31476 )

• females produce small litters that often die one day after birth

reduced male fertility ( J:31476 )

♂ • 5 out of 10 males are sterile

skeleton

abnormal humerus morphology ( J:31476 )

• abnormal humerus morphology are visible as early as P2

• the proximal head is flattened in some mice

• in some mice the articular surface of the head is abnormal

• some mice exhibit ectopic sesamoid bones in the elbow region with 5 of 14 mice exhibiting a small supernumery bone on the lateral side, 5 of 14 mice exhibiting a supernumerary sesamoid on the medial side, and 2 of 14 mice exhibiting a large supernumerary sesamoid along the crania side of the elbow joint

abnormal deltoid tuberosity morphology ( J:31476 )

• in some mice the deltoid is absent except for a distal rudiment consisting of either a small floating bone or bony protrusion in some mice the deltoid is severely truncated

short humerus ( J:31476 )

• 15% to 20% shortened

increased rib number ( J:31476 )

• mice exhibit an extra pair of ribs on vertebra 24

abnormal vertebral column morphology ( J:31476 )

• the articulation joining the ilium to the vertebral column is shifted half a vertebra

caudal vertebral transformation ( J:31476 )

• caudal vertebrae through Ca2 are anteriorized

lumbar vertebral transformation ( J:31476 )

• mice exhibit anteriorization of L1 to T13 with an extra pair of ribs

• all lumbar vertebrae are anteriorized

sacral vertebral transformation ( J:31476 )

• sacral vertebrae are anteriorized

limbs/digits/tail

abnormal humerus morphology ( J:31476 )

• abnormal humerus morphology are visible as early as P2

• the proximal head is flattened in some mice

• in some mice the articular surface of the head is abnormal

• some mice exhibit ectopic sesamoid bones in the elbow region with 5 of 14 mice exhibiting a small supernumery bone on the lateral side, 5 of 14 mice exhibiting a supernumerary sesamoid on the medial side, and 2 of 14 mice exhibiting a large supernumerary sesamoid along the crania side of the elbow joint

abnormal deltoid tuberosity morphology ( J:31476 )

• in some mice the deltoid is absent except for a distal rudiment consisting of either a small floating bone or bony protrusion in some mice the deltoid is severely truncated

short humerus ( J:31476 )

• 15% to 20% shortened

caudal vertebral transformation ( J:31476 )

• caudal vertebrae through Ca2 are anteriorized

Genotype
MGI:3844452

cx4

• Allelic Composition: Hoxa9^tm1Ipc/Hoxa9⁺; Hoxd9^tm1Ipc/Hoxd9⁺
• Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6

skeleton

lumbar vertebral transformation ( J:31476 )

• some mice exhibit partial anteriorization of vertebrae 21 to 25

Genotype
MGI:3844454

cx5

• Allelic Composition: Hoxa9^tm1Ipc/Hoxa9⁺; Hoxd9^tm1Ipc/Hoxd9^tm1Ipc
• Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6

skeleton

abnormal deltoid tuberosity morphology ( J:31476 )

• more affected than in Hoxd9^tm1Ipc homozygotes

short humerus ( J:31476 )

• 12% to 15% of mice exhibit a reduction in humerus length that is between that observed in Hoxd9^tm1Ipc homozygotes and Hoxa9^tm1Ipc Hoxd9^tm1Ipc homozygotes

abnormal vertebral column morphology ( J:31476 )

• 30% of mice exhibit the sum of vertebral column defects observed in Hoxd9^tm1Ipc homozygotes and Hoxa9^tm1Ipc heterozygotes

• 50% of mice exhibit vertebral column phenotypes observed in Hoxa9^tm1Ipc Hoxd9^tm1Ipc homozygotes

• 20% of mice exhibit unilateral transformation of vertebra 26 to L5, 27 to L6, and 28 to S1

lumbar vertebral transformation ( J:31476 )

• 20% of mice exhibit anteriorization of vertebra 27 to L6

sacral vertebral transformation ( J:31476 )

• 20% of mice exhibit anteriorization of vertebra 28 and 29 to L6 and S1, respectively

limbs/digits/tail

abnormal deltoid tuberosity morphology ( J:31476 )

• more affected than in Hoxd9^tm1Ipc homozygotes

short humerus ( J:31476 )

• 12% to 15% of mice exhibit a reduction in humerus length that is between that observed in Hoxd9^tm1Ipc homozygotes and Hoxa9^tm1Ipc Hoxd9^tm1Ipc homozygotes

Genotype
MGI:3844456

cx6

• Allelic Composition: Hoxa9^tm1Ipc/Hoxa9^tm1Ipc; Hoxd9^tm1Ipc/Hoxd9⁺
• Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6

skeleton

abnormal vertebral column morphology ( J:31476 )

• 60% of mice exhibit vertebral column phenotypes observed in Hoxa9^tm1Ipc homozygotes 40% of mice exhibit vertebral column phenotypes observed in Hoxa9^tm1Ipc Hoxd9^tm1Ipc homozygotes

limbs/digits/tail

limbs/digits/tail phenotype ( J:31476 )

N • mice exhibit normal humerus morphology