Phenotypes associated with this allele

• Allele Symbol: Glis3^tm1Amj
• Allele Name: targeted mutation 1, Anton M Jetten
• Allele ID: MGI:3848053
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Glis3^tm1Amj/Glis3^tm1Amj	involves: 129 * C57BL/6	MGI:3848057

Genotype
MGI:3848057

hm1

• Allelic Composition: Glis3^tm1Amj/Glis3^tm1Amj
• Genetic Background: involves: 129 * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:148994 )

• mice die by P12

renal/urinary system

abnormal renal tubule epithelial cell primary cilium morphology ( J:148994 )

• dilated tubules exhibit a reduction in cilium lining compared with wild-type tubules

polycystic kidney ( J:148994 )

• at P3, mice develop tubular and glomerular cysts unlike wild-type mice

• polycystic kidney disease worsens with age

• cysts originate from the glomeruli, tubules, and collecting ducts

• cell proliferation of the glomerulocyst epithelium lining is increased compared to the proliferation of wild-type Bowman's space lining

• cysts exhibit a reduction in cilium lining compared to in wild-type renal linings

increased glomerular capsule space ( J:148994 )

• between E14.5 and E15.5, Bowman's spaces are dilated unlike in wild-type mice

dilated renal tubule ( J:148994 )

• dilated tubules exhibit a reduction in cilium lining compared with wild-type tubules

homeostasis/metabolism

hyperglycemia ( J:148994 )

• in neonates due to a deficiency in the generation of pancreatic beta-cells

increased circulating insulin level ( J:148994 )

• in neonates due to a deficiency in the generation of pancreatic beta-cells

growth/size/body

decreased birth weight ( J:148994 )

• 10% at P0

polycystic kidney ( J:148994 )

• at P3, mice develop tubular and glomerular cysts unlike wild-type mice

• polycystic kidney disease worsens with age

• cysts originate from the glomeruli, tubules, and collecting ducts

• cell proliferation of the glomerulocyst epithelium lining is increased compared to the proliferation of wild-type Bowman's space lining

• cysts exhibit a reduction in cilium lining compared to in wild-type renal linings

cellular

abnormal renal tubule epithelial cell primary cilium morphology ( J:148994 )

• dilated tubules exhibit a reduction in cilium lining compared with wild-type tubules

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neonatal diabetes mellitus with congenital hypothyroidism		DOID:0060638	OMIM:610199	J:148994