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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Upk1aem2Mgef
endonuclease-mediated mutation 2, Mouse Genome Engineering Facility
MGI:7748716
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Upk1aem2Mgef/Upk1aem2Mgef C57BL/6NJNcbs-Upk1aem2Mgef MGI:7779737


Genotype
MGI:7779737
hm1
Allelic
Composition
Upk1aem2Mgef/Upk1aem2Mgef
Genetic
Background
C57BL/6NJNcbs-Upk1aem2Mgef
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Upk1aem2Mgef mutation (0 available); any Upk1a mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• at 90 days of age, male mice exhibit normal sperm function in terms of capacitation and acrosome reaction
• cauda epididymal sperm count (in millions) is significantly lower than that in wild-type controls (12.27 +/- 0.67 versus 16.32 +/- 1.66, respectively)
• prostate shows severe atrophy of tubular glands and massive proliferation of fibrous/connective tissue surrounding the mucosal epithelial of tubular glands
• prostate shows atrophy of mucosal epithelial cells/glands with infiltration of multinucleated giant cells
• males show a significant increase in relative prostate weight
• seminal vesicles show foci of mild degenerative changes in mucosal epithelial cells
• testes show foci of seminiferous tubular edema and mild edema/accumulation of fluids in between tubules
• testes show mild hyperplasia of Leydig cells
• males show a significant reduction in relative testis weight
• testes show mild degenerative changes
• caput epididymis shows moderate inflammation in tubules
• caput epididymis shows moderate inflammation in tubules along with mild hyperplasia of tubular epithelial cells
• males show a significant reduction in relative caput epididymis weight
• cauda epididymis shows severe ductular atrophy with mucosal epithelial cells surrounded by dense thickened fibrosis/connective tissue
• after natural mating with females of proven fertility, average litter size for male mice is 6.1 +/- 1.28 versus 9.81 +/- 1.55 for wild-type males
• adult males show a marginal decrease in fecundity when mated with females of proven fertility for a week

endocrine/exocrine glands
• pancreas shows apoptosis of beta cells
• pancreas shows atrophy of the islets with apoptosis of beta cells
• however, acinar cell morphology is normal
• prostate shows severe atrophy of tubular glands and massive proliferation of fibrous/connective tissue surrounding the mucosal epithelial of tubular glands
• prostate shows atrophy of mucosal epithelial cells/glands with infiltration of multinucleated giant cells
• males show a significant increase in relative prostate weight
• seminal vesicles show foci of mild degenerative changes in mucosal epithelial cells
• testes show foci of seminiferous tubular edema and mild edema/accumulation of fluids in between tubules
• testes show mild hyperplasia of Leydig cells
• males show a significant reduction in relative testis weight
• testes show mild degenerative changes

growth/size/body
N
• at 90 days of age, male mice show no significant difference in average body weight relative to wild-type controls
• males show a significant increase in relative kidney weight

renal/urinary system
• males show a significant increase in relative kidney weight
• kidneys show severe tubular nephritis associated with tubular/interstitial inflammation, degeneration, and fibrosis
• bladder shows accumulation of inflammatory exudate with dead debris and inflammatory cells in the lumen
• some tubules are in dysplastic or pre-neoplastic stages
• bladder shows severe mucosal transitional epithelial (urothelium) hyperplasia
• males show a significant increase in relative bladder weight
• bladder shows severe submucosal fibrosis

immune system
• liver shows mild foci of infiltration of inflammatory cells in the centrilobular region
• however, portal region with portal vein, bile duct, and hepatic artery appears normal
• kidneys show severe tubular nephritis associated with tubular/interstitial inflammation, degeneration, and fibrosis
• bladder shows accumulation of inflammatory exudate with dead debris and inflammatory cells in the lumen
• caput epididymis shows moderate inflammation in tubules
• following i.p. injection of uropathogenic Escherichia coli (UPEC), adult mice show a significantly higher bacterial count than wild-type controls in the caput, cauda, testes, seminal vesicle, prostate, bladder, kidney, and liver at 5 days post-infection, indicating lower efficiency of bacterial clearance in these tissues

cellular
• cauda epididymal sperm count (in millions) is significantly lower than that in wild-type controls (12.27 +/- 0.67 versus 16.32 +/- 1.66, respectively)
• brain shows multiple foci of apoptotic neurons
• pancreas shows apoptosis of beta cells

respiratory system
• lungs show moderate alveolar/interstitial edema with inflammation and fibrosis

liver/biliary system
• liver shows mild foci of infiltration of inflammatory cells in the centrilobular region
• however, portal region with portal vein, bile duct, and hepatic artery appears normal

nervous system
• brain shows multiple foci of apoptotic neurons
• brain shows multiple foci of apoptotic neurons
• however, the frontal cortex, hippocampus, and cerebral cortex are morphologically normal

homeostasis/metabolism
• lungs show moderate alveolar/interstitial edema with inflammation and fibrosis





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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory