Mouse Genome Informatics
hm
    Tbx6rv/Tbx6rv
involves: C57BL/J * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
skeleton
• fusions of ribs that are usually located in the lower half of the thoracic basket and are often asymmetric
• abnormal mesenchymal condensation in the anlage of the vertebral column
• thoracic vertebrae are irregular
• condensations of primitive intervertebral discs often appear distorted at E12
• left arch of atlas is sometimes bifurcated or enlarged
• fusions of the anterior arch of the Atlas with the Axis is common
• lumbar vertebrae are irregular
• mutants exhibit irregularities and fusions of the neural arches and transverse processes, probably resulting from irregularities in somite formation
• the vertebral bodies, especially in the lower thoracic and the lumbar region, are irregularly arranged
• thoracic/lumbar articular processes are often fused
• mutants exhibit irregularities and fusions of the transverse processes
• the transverse processes of cervical vertebrae are sometimes irregularly spaced
• some thoracic/lumbar vertebral bodies are enlarged
• fusion of cervical vertebral bodies
• some thoracic/lumbar vertebral bodies are enlarged

embryogenesis
• exhibit duplication of the caudal neural tube without duplications of the notochord
• segments of notochord are irregularly spaced in the thoracic/lumbar region at E13
• the notochord shows a massive pycnosis at the tail tip only
• somites at E13 appear to be unevenly distributed at the tail tip
• near the tail tip, somites are often fused

growth/size

limbs/digits/tail
• the tail tip is enlarged and buds/sprouts off with several branches as early as E11; buds arising at the tail tip are filled with mesenchyme
• tail is shortened at E12 and may be irregularly bifurcated
• varying severity of kinked tail

nervous system
• exhibit duplication of the caudal neural tube without duplications of the notochord

digestive/alimentary system
• in rare cases, the hindgut is doubled, however the accessory gut does not penetrate the accessory mesenchyme of the sprouting tail

renal/urinary system
• occasional unilateral absence of kidneys

reproductive system
• females are poor breeders (J:8119)

Mouse Models of Human Disease
OMIM IDRef(s)
Spondylocostal Dysostosis 1, Autosomal Recessive; SCDO1 277300 J:8119