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Phenotypes Associated with This Genotype
involves: 129S5/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hpse2Gt(OST411605)Lex mutation (0 available); any Hpse2 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• significant loss of homozygotes at 3 weeks of age
• remaining homozygotes die within one month after birth

• at P18, homozygotes are noticeably smaller than wild-type controls
• homozygotes exhibit reduced body weight gain during the first two weeks of life
• homozygotes begin to lose weight after two weeks of age

renal/urinary system
• homozygotes exhibit normal total glomeruli counts despite smaller kidney size
• no signs of hydronephrosis, urinary tract inflammation, or vesicoureteral reflux are observed
• at P15-18, urine albumin content and the urine albumin/creatinine ratio are significantly increased
• mutant kidneys are significantly smaller but otherwise grossly normal
• ~90% of homozygotes show distended bladders (megacystis)
• however, no obvious urethra stenosis is observed
• at P18, mutant bladders are palpably stiffer and show significantly increased collagen deposition, esp. within the interstitium of the detrusor layer, relative to wild-type controls
• however, no differences are noted at birth, when collagen deposition is minimal in both genotypes
• at P18, cell proliferation is significantly reduced within all bladder tissue layers, i.e. urothelium, lamina propria, and detrusor smooth muscle, as shown by Ki67 staining
• although Tgfbeta signaling is attenuated at P6, Tgfbeta activity is significantly enhanced at P18 (when excessive fibrotic tissue is observed), indicating pathological tissue remodeling in mutant bladders
• however, detrusor smooth muscle and urothelial cell fate determination are normal based on expression of specific molecular markers
• a VSOP (voided stain on paper) assay revealed that unrestrained homozygotes exhibit significantly smaller and more frequent urine spots (voids) than wild-type controls
• number of urine spots (voids) is significantly increased in a VSOP assay
• at P14-P18, cystometrogram (CMG) analysis showed that homozygotes leak constantly and have significantly higher resting and voiding intravesical pressures than wild-type controls
• occasionally, mutants cease to leak and show a concurrent steady increase in intravesical pressure until the reappearance of leaking/voiding
• the CMG pattern is highly irregular and the sharp spikes of acute increase of intravesical pressure are blunted

• at P15-18, blood glucose levels are significantly decreased
• at P15-18, blood ALP levels are significantly increased
• at P15-18, blood albumin levels are significantly decreased
• at P15-18, urine albumin content and the urine albumin/creatinine ratio are significantly increased

digestive/alimentary system
• intestinal contents are grossly reduced, suggesting malnutrition and digestive tract defects

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
urofacial syndrome DOID:0050816 OMIM:236730

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
MGI 6.22
The Jackson Laboratory