Phenotypes associated with this allele

• Allele Symbol: Pxmp2^tm1Jkh
• Allele Name: targeted mutation 1, J Kalervo Hiltunen
• Allele ID: MGI:3844254
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pxmp2^tm1Jkh/Pxmp2^tm1Jkh	B6.129X1-Pxmp2^tm1Jkh	MGI:3844255

Genotype
MGI:3844255

hm1

• Allelic Composition: Pxmp2^tm1Jkh/Pxmp2^tm1Jkh
• Genetic Background: B6.129X1-Pxmp2^tm1Jkh

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

reproductive system

abnormal mammary gland growth during pregnancy ( J:148171 )

♀ • retarded growth during pregnancy

abnormal female reproductive system morphology ( J:148171 )

♀ • limited abnormalities in reproductive organs during pregnancy

homeostasis/metabolism

increased blood uric acid level ( J:148171 )

• increase in serum urate levels

abnormal urine homeostasis ( J:148171 )

• increase in the urinary urate to creatinine ratio and a decrease in the urinary allantoin to creatinine ratio suggesting a decrease in the degradation of urate

abnormal metabolism ( J:148171 )

• decrease in metabolism of exogenous glycolic acid to oxalic acid

liver/biliary system

abnormal liver physiology ( J:148171 )

• in vitro assays indicate a partial restriction in the peroxisomal membrane permeability to metabolites

renal/urinary system

abnormal urine homeostasis ( J:148171 )

• increase in the urinary urate to creatinine ratio and a decrease in the urinary allantoin to creatinine ratio suggesting a decrease in the degradation of urate

endocrine/exocrine glands

abnormal mammary gland growth during pregnancy ( J:148171 )

♀ • retarded growth during pregnancy

hypolactation ( J:148171 )

♀ • low level of milk production, insufficient to adequately provide for pups

integument

abnormal mammary gland growth during pregnancy ( J:148171 )

♀ • retarded growth during pregnancy

hypolactation ( J:148171 )

♀ • low level of milk production, insufficient to adequately provide for pups