Phenotypes associated with this allele

• Allele Symbol: Hoxd4^tm1Bhr
• Allele Name: targeted mutation 1, Richard R Behringer
• Allele ID: MGI:2151488
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hoxd4^tm1Bhr/Hoxd4^tm1Bhr	involves: 129S/SvEv	MGI:3611049
ht2	Hoxd4^tm1Bhr/Hoxd4^+	involves: 129S/SvEv	MGI:3611050
cx3	Hoxd4^tm1Bhr/Hoxd4^tm1Bhr Rarg^tm1Ipc/Rarg^tm1Ipc	involves: 129S2/SvPas * 129S7/SvEvBrd * CD-1	MGI:2668538
cx4	Hoxa4^tm1Bhr/Hoxa4^tm1Bhr Hoxd4^tm1Bhr/Hoxd4^tm1Bhr	involves: 129S/SvEv	MGI:3611052
cx5	Hoxb4^tm1Bay/Hoxb4^tm1Bay Hoxd4^tm1Bhr/Hoxd4^tm1Bhr	involves: 129S/SvEv	MGI:3611053
cx6	Hoxa4^tm1Bhr/Hoxa4^tm1Bhr Hoxb4^tm1Bay/Hoxb4^tm1Bay Hoxd4^tm1Bhr/Hoxd4^tm1Bhr	involves: 129S/SvEv	MGI:3611055

Genotype
MGI:3611049

hm1

• Allelic Composition: Hoxd4^tm1Bhr/Hoxd4^tm1Bhr
• Genetic Background: involves: 129S/SvEv

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

skeleton

abnormal basioccipital bone morphology ( J:25267 )

• excessive basioccipital ossifications

increased rib number ( J:25267 )

• C7 ribs in 33% of homozygotes

abnormal cervical vertebrae morphology ( J:25267 )

• begin appearing around E14.5

• neural arch of C3 abnormal

• C7 ribs in 33% of homozygotes

abnormal cervical atlas morphology ( J:25267 )

• loss of components in C1

abnormal cervical axis morphology ( J:25267 )

• an anterior arch on C2

• lateral articular surfaces of C2 more like C1

• incomplete lateral foramina present in C2

abnormal odontoid process morphology ( J:25267 )

• greatly reduced dens

cervical vertebral transformation ( J:25267 )

• C2 to C1 transformation

craniofacial

abnormal basioccipital bone morphology ( J:25267 )

• excessive basioccipital ossifications

Genotype
MGI:3611050

ht2

• Allelic Composition: Hoxd4^tm1Bhr/Hoxd4⁺
• Genetic Background: involves: 129S/SvEv

skeleton

increased rib number ( J:25267 )

• C7 ribs in 17% of homozygotes

abnormal cervical vertebrae morphology ( J:25267 )

• C7 ribs in 17% of homozygotes

abnormal cervical axis morphology ( J:25267 )

• C2 to C1 transformation

cervical vertebral transformation ( J:25267 )

• C2 to C1 transformation

Genotype
MGI:2668538

cx3

• Allelic Composition: Hoxd4^tm1Bhr/Hoxd4^tm1Bhr; Rarg^tm1Ipc/Rarg^tm1Ipc
• Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * CD-1

growth/size/body

decreased body size ( J:58620 )

• considerably reduced

skeleton

abnormal basioccipital bone morphology ( J:58620 )

• malformed basioccipital bones in 1/3 of double homozygotes

abnormal cervical vertebrae morphology ( J:58620 )

• ectopic anterior arch on C3 in 83% of homozygotes

fusion of atlas and occipital bones ( J:58620 )

• basioccipital bone sometimes fuses to anterior arch of C1

reproductive system

male infertility ( J:58620 )

♂ • homozygous males are infertile but homozygous females are fertile

craniofacial

abnormal basioccipital bone morphology ( J:58620 )

• malformed basioccipital bones in 1/3 of double homozygotes

fusion of atlas and occipital bones ( J:58620 )

• basioccipital bone sometimes fuses to anterior arch of C1

Genotype
MGI:3611052

cx4

• Allelic Composition: Hoxa4^tm1Bhr/Hoxa4^tm1Bhr; Hoxd4^tm1Bhr/Hoxd4^tm1Bhr
• Genetic Background: involves: 129S/SvEv

skeleton

increased rib number ( J:27467 )

• C7 ribs

abnormal cervical vertebrae morphology ( J:27467 )

• dorsal cartilage between C2 and C3 fuses, penetrance 17%

• lateral ossified portions of C2 and C3 never fuse

• C7 ribs

cervical vertebral transformation ( J:27467 )

• large processus spinosi on both C2 and C3

Genotype
MGI:3611053

cx5

• Allelic Composition: Hoxb4^tm1Bay/Hoxb4^tm1Bay; Hoxd4^tm1Bhr/Hoxd4^tm1Bhr
• Genetic Background: involves: 129S/SvEv

mortality/aging

postnatal lethality, incomplete penetrance ( J:27467 )

• most homozygotes die within the first week of life but small numbers survive past six months

skeleton

abnormal cervical vertebrae morphology ( J:27467 )

• neural arches of C1 and C2 are often fused

cervical vertebral transformation ( J:27467 )

• almost complete C2 to C1 transformation

• C3 to C1 and C3 to C2 transformations

• C6 to C5 and C7 to C6 transformations

fusion of vertebral arches ( J:27467 )

• neural arches of C1 and C2 are often fused

Genotype
MGI:3611055

cx6

• Allelic Composition: Hoxa4^tm1Bhr/Hoxa4^tm1Bhr; Hoxb4^tm1Bay/Hoxb4^tm1Bay; Hoxd4^tm1Bhr/Hoxd4^tm1Bhr
• Genetic Background: involves: 129S/SvEv

skeleton

abnormal cervical vertebrae morphology ( J:27467 )

• atlas like anterior arches on C1 through C5

• lateral foramina on C2, C3, and C4

cervical vertebral transformation ( J:27467 )

• C6 to C5 and C7 to C6 transformations