Phenotypes associated with this allele

• Allele Symbol: Dlg1^tm1Jhm
• Allele Name: targeted mutation 1, Jeffrey H Miner
• Allele ID: MGI:3699270
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dlg1^tm1Jhm/Dlg1^tm1Jhm	involves: 129 * C57BL/6J	MGI:3699838
cn2	Dlg1^tm1Jhm/Dlg1^tm1Jhm Tg(Vil1-cre)997Gum/0	involves: 129 * C57BL/6 * SJL	MGI:4362042

Genotype
MGI:3699838

hm1

• Allelic Composition: Dlg1^tm1Jhm/Dlg1^tm1Jhm
• Genetic Background: involves: 129 * C57BL/6J

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

Dlg1^tm1Jhm/Dlg1^tm1Jhm embryos exhibit urinary tract abnormalities, including hydroephrosis

mortality/aging

neonatal lethality, complete penetrance ( J:118250 )

• normal numbers of homozygotes are found during embryogenesis, but die shortly after birth due to respiratory distress

renal/urinary system

impaired ureteric peristalsis ( J:118250 )

• ureteral peristalsis is severely impaired

• a length-reducing contraction is observed in mutants in contrast to a diameter-reducing contraction like normal peristalsis in wild-type ureters

dilated kidney collecting duct ( J:118250 )

• in absence of hydronephrosis, medullary collecting ducts are frequently dilated

hydronephrosis ( J:118250 )

• 35% of mice show severe unilateral or bilateral hydronephrosis perinatally; in severe cases, only a thin rim of parenchyma containing a few developing nephrons remains at E18.5

renal hypoplasia ( J:118250 )

• all mutants show renal hypoplasia

decreased nephron number ( J:118250 )

• in severe cases, only a thin rim of (eroded) parenchyma containing a few developing nephrons remains at E18.5

single kidney ( J:118250 )

• 20% of mice have unilateral renal agenesis

abnormal ureter morphology ( J:118250 )

abnormal ureter development ( J:118250 )

• ureters lack ureteric stromal cells

abnormal ureter smooth muscle morphology ( J:118250 )

• smooth muscle of ureter is disorganized; mutants have rounded smooth muscle cells (SMCs) in contrast to spindle-shaped ones in wild-type in cross-sections; in longitudinal sections, opposite is seen (round cells in wild-type, spindle shaped in mutants) indicating 90 degree misalignment of SMCs

hydroureter ( J:118250 )

• hydroureter can be detected as early as E16.5

short ureter ( J:118250 )

• all mutants have short ureters

abnormal ureteric bud morphology ( J:118250 )

impaired branching involved in ureteric bud morphogenesis ( J:118250 )

• kidneys appear to have reduced branching of the ureteric bud

muscle

impaired smooth muscle contractility ( J:118250 )

• ureteral pertistalsis is severely impaired

• a length-reducing contraction is observed in mutants in contrast to a diameter-reducing contraction like normal peristalsis in wild-type ureters

impaired ureteric peristalsis ( J:118250 )

• ureteral peristalsis is severely impaired

• a length-reducing contraction is observed in mutants in contrast to a diameter-reducing contraction like normal peristalsis in wild-type ureters

respiratory system

respiratory distress ( J:118250 )

• after birth mutants display respiratory distress and die

Genotype
MGI:4362042

cn2

• Allelic Composition: Dlg1^tm1Jhm/Dlg1^tm1Jhm; Tg(Vil1-cre)997Gum/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

digestive/alimentary system

abnormal enterocyte morphology ( J:146174 )

• the upper zone surface of epithelial cells in the cecum and ascending colon are shorter than in wild-type mice