Mouse Genome Informatics
hm
    Dll3tm1Rbe/Dll3tm1Rbe
involves: 129P2/Ola * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• many die between birth and P10

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

embryogenesis
• 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 IDRef(s)
Spondylocostal Dysostosis 1, Autosomal Recessive; SCDO1 277300 J:75954