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Phenotypes Associated with This Genotype
Genotype
MGI:2178677
Allelic
Composition
Dll3tm1Rbe/Dll3tm1Rbe
Genetic
Background
involves: 129P2/Ola * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dll3tm1Rbe mutation (1 available); any Dll3 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• many die between birth and P10

growth/size/body
• body length is reduced by 40%; complete penetrance

embryo
• somitogenesis is delayed and irregular with reduced mesenchymal condensation
• the anteroposterior somite identity is disrupted in trunk paraxial mesoderm as indicated by marker analysis
• the 'segmentation clock' is disrupted in trunk paraxial mesoderm as indicated by marker analysis
• intersomitic boundaries are not seen at the time of somite development

skeleton
• skeletal dysplasia
• arrangement of rib heads is highly disorganized at E13.5
• ribs are sometimes absent
• ribs are sometimes fused
• single vertebra show more than one center of ossification
• arrangement of vertebrae is highly disorganized in the thoracic region at E13.5
• the cartilage primordia of the vertebrae are disorganized in E13.5 embryos
• short tail is due to the absence of approximately 20 coccygeal vertebrae
• vertebral arches are highly disorganized with ribs sometimes fused or absent

nervous system
• sensory chain ganglia disarray at E10.5-11.5
• dorsal root ganglia are irregular in size and shape in the thoracic region at E13.5
• evident in the thoracic and cervical region at E13.5
• uneven distribution of spinal nerves at E13.5
• spinal axons pass through the anterior, posterior, or central part of the somite segment at E10.5-11.5 unlike in controls in which the ventral spinal axons pass only through the anterior of the somite

limbs/digits/tail
• short tail is due to the absence of approximately 20 coccygeal vertebrae
• complete penetrance

Mouse Models of Human Disease
OMIM ID Ref(s)
Spondylocostal Dysostosis 1, Autosomal Recessive; SCDO1 277300 J:75954


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory