Phenotypes associated with this allele

• Allele Symbol: Dll3^tm1Rbe
• Allele Name: targeted mutation 1, Rosa Beddington
• Allele ID: MGI:2178443
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dll3^tm1Rbe/Dll3^tm1Rbe	B6.129P2-Dll3^tm1Rbe	MGI:3850640
hm2	Dll3^tm1Rbe/Dll3^tm1Rbe	involves: 129P2/Ola * C57BL/6	MGI:2178677
ht3	Dll3^tm1Rbe/Dll3^+	involves: 129P2/OlaHsd	MGI:5431504

Genotype
MGI:3850640

hm1

• Allelic Composition: Dll3^tm1Rbe/Dll3^tm1Rbe
• Genetic Background: B6.129P2-Dll3^tm1Rbe

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

muscle

abnormal multifidus muscle morphology ( J:324821 )

• significant changes in the cranial border of the multifidus muscle

skeleton

rib bifurcation ( J:324821 )

rib fusion ( J:324821 )

vertebral fusion ( J:324821 )

• fusions are seen

• however, the spinous process at T2 is present and distinct

Genotype
MGI:2178677

hm2

• Allelic Composition: Dll3^tm1Rbe/Dll3^tm1Rbe
• Genetic Background: involves: 129P2/Ola * C57BL/6

mortality/aging

postnatal lethality, incomplete penetrance ( J:75954 )

• many die between birth and P10

growth/size/body

decreased body length ( J:75954 )

• body length is reduced by 40%; complete penetrance

embryo

kinked neural tube ( J:75954 )

abnormal somite development ( J:75954 )

• somitogenesis is delayed and irregular with reduced mesenchymal condensation

abnormal rostral-caudal patterning of the somites ( J:75954 )

• the anteroposterior somite identity is disrupted in trunk paraxial mesoderm as indicated by marker analysis

abnormal somite segmentation clock ( J:75954 )

• the 'segmentation clock' is disrupted in trunk paraxial mesoderm as indicated by marker analysis

delayed somite formation ( J:75954 )

• intersomitic boundaries are not seen at the time of somite development

skeleton

abnormal skeleton morphology ( J:75954 )

• skeletal dysplasia

abnormal rib morphology ( J:75954 )

• arrangement of rib heads is highly disorganized at E13.5

decreased rib number ( J:75954 )

• ribs are sometimes absent

rib fusion ( J:75954 )

• ribs are sometimes fused

abnormal vertebrae morphology ( J:75954 )

• single vertebra show more than one center of ossification

• arrangement of vertebrae is highly disorganized in the thoracic region at E13.5

abnormal vertebrae development ( J:75954 )

• the cartilage primordia of the vertebrae are disorganized in E13.5 embryos

decreased vertebrae number ( J:75954 )

decreased caudal vertebrae number ( J:75954 )

• short tail is due to the absence of approximately 20 coccygeal vertebrae

abnormal vertebral arch morphology ( J:75954 )

• vertebral arches are highly disorganized with ribs sometimes fused or absent

nervous system

kinked neural tube ( J:75954 )

abnormal paravertebral ganglion morphology ( J:75954 )

• sensory chain ganglia disarray at E10.5-11.5

abnormal dorsal root ganglion morphology ( J:75954 )

• dorsal root ganglia are irregular in size and shape in the thoracic region at E13.5

fused dorsal root ganglion ( J:75954 )

• evident in the thoracic and cervical region at E13.5

abnormal spinal nerve morphology ( J:75954 )

• 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

decreased caudal vertebrae number ( J:75954 )

• short tail is due to the absence of approximately 20 coccygeal vertebrae

short tail ( J:75954 )

• complete penetrance

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spondylocostal dysostosis		DOID:0050568	OMIM:PS277300	J:75954

Genotype
MGI:5431504

ht3

• Allelic Composition: Dll3^tm1Rbe/Dll3⁺
• Genetic Background: involves: 129P2/OlaHsd

skeleton

skeleton phenotype ( J:186213 )

N • mice do not exhibit vertebral defects under normoxic and hypoxic conditions