Phenotypes associated with this allele

• Allele Symbol: Dlg5^tm1Vv
• Allele Name: targeted mutation 1, Valeri Vasioukhin
• Allele ID: MGI:3757646
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dlg5^tm1Vv/Dlg5^tm1Vv	involves: 129 * C57BL/6	MGI:3758605

Genotype
MGI:3758605

hm1

• Allelic Composition: Dlg5^tm1Vv/Dlg5^tm1Vv
• Genetic Background: involves: 129 * C57BL/6

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

nervous system

abnormal neuron differentiation ( J:124940 )

• at E15.5, neural progenitor cells are disorganized and fail to form a polarized epithelial layer

• however, at E13.5 brain morphology is normal

abnormal brain morphology ( J:124940 )

hydrocephaly ( J:124940 )

• all mice exhibit hydrocephaly

increased brain size ( J:124940 )

• at P21, brain size is increased relative to that of controls

dilated lateral ventricle ( J:124940 )

• the lateral ventricles are dilated and fused

abnormal third ventricle morphology ( J:124940 )

• the third ventricle is severely disorganized

abnormal cerebral aqueduct morphology ( J:124940 )

• cells in the lining of the aqueduct of Sylvius are disorganized and fail to keep it open at day 0 as in wild-type mice

abnormal postnatal subventricular zone morphology ( J:124940 )

• from P7 to P21, cells accumulate along the subventricular zone and the zone becomes disorganized

abnormal ependyma morphology ( J:124940 )

• at P7, ependymal cells are absent

renal/urinary system

kidney cyst ( J:124940 )

• all mice exhibit kidney cysts that vary from small cyst-like structures to large fluid-filled cysts lined with a fibrous surface instead of polarized epithelial cells

• the majority of cysts originate from the collecting duct

• cyst-like structures lack cilia

abnormal kidney collecting duct morphology ( J:124940 )

• collecting duct cells lose polarity

• kidneys sometimes display occlusions of the collecting ducts

abnormal papillary duct morphology ( J:124940 )

• papillary ducts in the kidney pelvis are disorganized and often fail to maintain tube openings

dilated kidney collecting duct ( J:124940 )

• at P3, collecting ducts are dilated and no longer lined with cilia

abnormal renal tubule morphology ( J:124940 )

• tubule cells lose polarity

abnormal ureter morphology ( J:124940 )

• kidneys sometimes contain ureteral polyps

ureter stenosis ( J:124940 )

• in 2 of 6 mice, ureters are constricted

homeostasis/metabolism

increased blood urea nitrogen level ( J:124940 )

• at 3.5 and 6.5 months of age

behavior/neurological

abnormal gait ( J:124940 )

• surviving mice develop a hopping gait

growth/size/body

kidney cyst ( J:124940 )

• all mice exhibit kidney cysts that vary from small cyst-like structures to large fluid-filled cysts lined with a fibrous surface instead of polarized epithelial cells

• the majority of cysts originate from the collecting duct

• cyst-like structures lack cilia

abnormal head morphology ( J:124940 )

• mice have a dome-shaped head

postnatal growth retardation ( J:124940 )

• at 1 week

cellular

abnormal neuron differentiation ( J:124940 )

• at E15.5, neural progenitor cells are disorganized and fail to form a polarized epithelial layer

• however, at E13.5 brain morphology is normal