Phenotypes Associated with This Genotype

Genotype
MGI:3700984

• Allelic Composition: Tbx6^rv/Tbx6^rv
• Genetic Background: involves: C57BL/J * C57BL/6J

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

skeleton

rib fusion ( J:8119 )

• fusions of ribs that are usually located in the lower half of the thoracic basket and are often asymmetric

abnormal vertebral column morphology ( J:8119 )

• abnormal mesenchymal condensation in the anlage of the vertebral column

abnormal thoracic vertebrae morphology ( J:8119 )

• thoracic vertebrae are irregular

abnormal intervertebral disk development ( J:8119 )

• condensations of primitive intervertebral discs often appear distorted at E12

abnormal cervical vertebrae morphology ( J:8119 )

abnormal cervical atlas morphology ( J:8119 )

• left arch of atlas is sometimes bifurcated or enlarged

cervical vertebral fusion ( J:8119 )

• fusions of the anterior arch of the Atlas with the Axis is common

abnormal lumbar vertebrae morphology ( J:8119 )

• lumbar vertebrae are irregular

abnormal vertebral arch development ( J:8119 )

• mutants exhibit irregularities and fusions of the neural arches and transverse processes, probably resulting from irregularities in somite formation

abnormal vertebral body development ( J:8119 )

• the vertebral bodies, especially in the lower thoracic and the lumbar region, are irregularly arranged

abnormal vertebral articular process morphology ( J:8119 )

• thoracic/lumbar articular processes are often fused

abnormal vertebral transverse process morphology ( J:8119 )

• mutants exhibit irregularities and fusions of the transverse processes

• the transverse processes of cervical vertebrae are sometimes irregularly spaced

fusion of vertebral arches ( J:8119 )

enlarged vertebral body ( J:8119 )

• some thoracic/lumbar vertebral bodies are enlarged

fusion of vertebral bodies ( J:8119 )

• fusion of cervical vertebral bodies

small vertebral body ( J:8119 )

• some thoracic/lumbar vertebral bodies are enlarged

embryo

abnormal neural tube morphology ( J:8119 )

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

abnormal notochord morphology ( J:8119 )

• segments of notochord are irregularly spaced in the thoracic/lumbar region at E13

• the notochord shows a massive pycnosis at the tail tip only

abnormal somite development ( J:8119 )

• somites at E13 appear to be unevenly distributed at the tail tip

fused somites ( J:8119 )

• near the tail tip, somites are often fused

growth/size/body

kidney cyst ( J:8119 )

decreased body length ( J:8119 )

limbs/digits/tail

abnormal tail development ( J:8119 )

• 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

short tail ( J:8119 )

• tail is shortened at E12 and may be irregularly bifurcated

kinked tail ( J:8119 )

• varying severity of kinked tail

nervous system

abnormal neural tube morphology ( J:8119 )

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

digestive/alimentary system

abnormal digestive system development ( J:8119 )

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

renal/urinary system

kidney cyst ( J:8119 )

single kidney ( J:8119 )

• occasional unilateral absence of kidneys

reproductive system

reduced female fertility ( J:8119 )

♀ • females are poor breeders

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spondylocostal dysostosis		DOID:0050568	OMIM:PS277300	J:8119