Phenotypes Associated with This Genotype

Genotype
MGI:2173255

• Allelic Composition: Dll3^pu/Dll3^pu
• Genetic Background: involves: 101/Rl * C3H/Rl

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:14975 )

• reduced viability after birth

growth/size/body

decreased body length ( J:14975 )

• the whole trunk region is shortened

embryo

abnormal presomitic mesoderm morphology ( J:48518 )

• presomitic mesoderm is thickened and disorganized at E9.5

abnormal somite development ( J:48518 , J:14975 )

• presomitic mesoderm is thickened and disorganized at E9.5 and segmental borders between epithelial somites are not formed (J:48518)

• homozygotes exhibit defective segmentation; although the paraxial mesoderm forms somite tissue with an epithelially arranged outer layer, this material either shows only an abortive segmentation into somites or, in the tail, none at all (J:14975)

• somites are not clearly defined along the tail, are irregular in shape, and the intersegmental fissures are less well defined (J:14975)

abnormal rostral-caudal patterning of the somites ( J:48518 )

• the boundaries between rostral-caudal compartments within somites are severely disrupted as indicated by abnormal spatial localization of various gene markers

abnormal somite border morphology ( J:48518 , J:14975 )

• at E9.5 segmental borders between epithelial somites are not clearly formed (J:48518)

• the intersegmental fissures are less well defined and are not always strictly parallel to each other, unlike in control embryos (J:14975)

abnormal somite shape ( J:48518 , J:14975 )

• somites appear irregular in shape (J:48518)

abnormal somite size ( J:48518 )

• somites appear irregular in size

delayed somite formation ( J:14975 )

• in the tail, the paraxial mesoderm is formed into solid somite tissue with some delay and in a less orderly fashion

skeleton

abnormal cranium morphology ( J:14975 )

• anomalies in the skull in the immediate vicinity of the foramen magnum

sternebra fusion ( J:14975 )

• fusions between adjacent sternebrae, often at an angle, are common

abnormal rib morphology ( J:14975 )

• ribs are irregular, particularly in the caudal half of the thoracic region, where the ribs tend to be bunched together

rib bifurcation ( J:48518 , J:324821 )

rib fusion ( J:48518 , J:324821 , J:14975 )

• irregular rib fusions (J:14975)

kyphosis ( J:14975 )

lordosis ( J:14975 )

abnormal vertebrae morphology ( J:48518 , J:14975 )

• deformed vertebrae (J:48518)

• vertebral column consists of a jumble of vertebrae and fragments of vertebrae (J:14975)

decreased caudal vertebrae number ( J:14975 )

vertebral fusion ( J:324821 , J:14975 )

• fusions are seen (J:324821)

• however, the spinous process at T2 is present and distinct (J:324821)

• highly irregular fusions between vertebrae and fragments of vertebrae (J:14975)

short vertebral column ( J:14975 )

• shortened all along its length

abnormal sclerotome morphology ( J:14975 )

• sclerotome tissue remains continuous and gives rise to abnormal blastema which then chondrify and ossify

muscle

abnormal dermomyotome development ( J:14975 )

• segmentation into the dermomyotome is belated

abnormal multifidus muscle morphology ( J:324821 )

• significant changes in the cranial border of the multifidus muscle

nervous system

abnormal brain ependyma morphology ( J:48518 )

• 3 of 6 adults show unusual unilateral and bilateral cysts in the lateral ventricular ependymal linings

abnormal dorsal root ganglion morphology ( J:48518 )

• spinal ganglia are irregularly formed and unevenly spaced

fused dorsal root ganglion ( J:14975 )

• spinal ganglia is an almost continuous mass instead of being separate from each other as in wild-type

abnormal spinal nerve morphology ( J:48518 )

• spinal nerves are irregularly formed and unevenly spaced

limbs/digits/tail

decreased caudal vertebrae number ( J:14975 )

short tail ( J:14975 )

• tail is reduced to a small stub or is all but absent

thin tail ( J:14975 )

• tails are thinner distally and are pointed at the tip at E14

behavior/neurological

abnormal sexual interaction ( J:14975 )

• mutants are poor breeders

craniofacial

abnormal cranium morphology ( J:14975 )

• anomalies in the skull in the immediate vicinity of the foramen magnum