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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Shpkem1Scher
endonuclease-mediated mutation 1, Stephanie Cherqui
MGI:7705855
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Shpkem1Scher/Shpkem1Scher C57BL/6J-Shpkem1Scher MGI:7705864


Genotype
MGI:7705864
hm1
Allelic
Composition		 Shpkem1Scher/Shpkem1Scher
Genetic
Background		 C57BL/6J-Shpkem1Scher
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Shpkem1Scher mutation (0 available); any Shpk mutation (23 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
abnormal urine homeostasis ( J:351905 )
• increase in urinary sedoheptulose and erythritol levels
abnormal metabolism ( J:351905 )
• pentose phosphate pathway (PPP) metabolomics are disrupted in the liver and urine, with a reduction in PPP metabolites S7P, glyceraldehyde-3-phosphate, erythrose-4-phosphate (E4P), ribose-5-phosphate, and 6-phosphogluconate in the liver and a decrease of hexose sugars (glucose and fructose) and AMP, indicating PPP dysregulation in the liver

liver/biliary system
liver/biliary system phenotype ( J:351905 )
N
• mice show no obvious differences in the liver

renal/urinary system
renal/urinary system phenotype ( J:351905 )
N
• mice show no obvious differences in the kidneys
abnormal urine homeostasis ( J:351905 )
• increase in urinary sedoheptulose and erythritol levels




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Send questions and comments to User Support. 		last database update
10/29/2024
MGI 6.24 		The Jackson Laboratory