Phenotypes associated with this allele

• Allele Symbol: Del(2Gm13672-Hoxd11)68Ddu
• Allele Name: targeted mutation 1, Dennis Duboule
• Allele ID: MGI:2656714
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Del(2Gm13672-Hoxd11)68Ddu/Del(2Gm13672-Hoxd11)68Ddu	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:3576585
ht2	Del(2Gm13672-Hoxd11)68Ddu/+	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:3576572

Genotype
MGI:3576585

hm1

• Allelic Composition: Del(2Gm13672-Hoxd11)68Ddu/Del(2Gm13672-Hoxd11)68Ddu
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

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

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:54543 )

• embryos die before E8

Genotype
MGI:3576572

ht2

• Allelic Composition: Del(2Gm13672-Hoxd11)68Ddu/+
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

mortality/aging

prenatal lethality, incomplete penetrance ( J:54543 )

• most heterozygous mutants die in utero, very few survive to birth or weaning

skeleton

abnormal sternum morphology ( J:54543 )

• 30% show severe sternum defects

abnormal sternebra morphology ( J:54543 )

• mutants often have a transformation of the 4th sternebra into the morphology of the fifth, with three pairs of ribs articulating instead of two, and the fifth sternebra is absent

abnormal sternocostal joint morphology ( J:54543 )

abnormal rib morphology ( J:54543 )

• the most posterior thoracic vertebrae lacks ribs on either one or both sides

• 2 of 12 mutants have extra ribs emerging from the 7th cervical vertebrae

decreased thoracic vertebrae number ( J:54543 )

• 3 of 12 mutants have 12 thoracic vertebrae instead of 13, the most posterior one lacking ribs on either one or both sides

abnormal cervical vertebrae morphology ( J:54543 )

• all mutants exhibit a rib-like small articulation on the 7th cervical vertebrae (C7)

• 2 of 12 mutants have extra ribs emerging from C7

abnormal cervical axis morphology ( J:54543 )

• the axis (C2) is abnormal

abnormal vertebral arch morphology ( J:54543 )

• 40% exhibit a split neural arch in T10

vertebral transformation ( J:54543 )

• posterior transformations

cervical vertebral transformation ( J:54543 )

• C6 is abnormal, with either the loss of the anterior tuberculi or improper fusion of the anterior tuberculi to the vertebral bone resulting in a vertebra that has a truncated tuberculi and resembles C7

embryo

abnormal embryo development ( J:54543 )

• the midline is chaotic at E8

abnormal caudal neuropore morphology ( J:54543 )

• posterior neuropore region is ill formed at E8

abnormal somite development ( J:54543 )

• somitic condensations are hardly visible or undetectable at E8; when seen, somites are not properly condensed

nervous system

abnormal caudal neuropore morphology ( J:54543 )

• posterior neuropore region is ill formed at E8

reproductive system

reduced fertility ( J:54543 )