Mouse Genome Informatics
hm1
    Pin1tm1Tuc/Pin1tm1Tuc
B6.129P2-Pin1tm1Tuc
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
endocrine/exocrine glands
• ovaries contained fewer follicles (J:83663)

reproductive system
• decreased proliferation of PGCs due to a prolonged cell cycle
• no ectopic PGC migration, cell cycle arrest, or apoptosis observed
• ovaries contained fewer follicles (J:83663)
• reduced number of primordial germ cells (PGCs) at 13.5 dpc

cellular
• decreased proliferation of PGCs due to a prolonged cell cycle
• no ectopic PGC migration, cell cycle arrest, or apoptosis observed


Mouse Genome Informatics
hm2
    Pin1tm1Tuc/Pin1tm1Tuc
involves: 129 * 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• levels of insoluble amyloid beta42 are increased by 32% in the brains of mutants at 15 months of age compared to wild-type mice
• however, no changes in the levels of amyloid beta40 or amyloid beta42 is seen at 2-6 months of age
• these results indicate an age-dependent and selective increase in insoluble amyloid beta42 as observed in Alzheimer's patients

homeostasis/metabolism
• levels of insoluble amyloid beta42 are increased by 32% in the brains of mutants at 15 months of age compared to wild-type mice
• however, no changes in the levels of amyloid beta40 or amyloid beta42 is seen at 2-6 months of age
• these results indicate an age-dependent and selective increase in insoluble amyloid beta42 as observed in Alzheimer's patients

Mouse Models of Human Disease
OMIM IDRef(s)
Alzheimer Disease; AD 104300 J:107132


Mouse Genome Informatics
hm3
    Pin1tm1Tuc/Pin1tm1Tuc
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Reduced body weight and testicular atrophy in Pin1tm1Tuc/Pin1tm1Tuc mice

endocrine/exocrine glands
• failure to undergo lobuloalveolar development during pregnancy due to impaired development and proliferation of mammary epithelia cells (J:74508)
• evident around 3.5 months of age (J:74508)
• more pronounced at 18 months of age, at which point mature sperm was undetected (J:74508)
• 44% reduction in testicular weight relative to wild-type by 3 to 5 months of age (J:74508)

growth/size
• body weight was similar to that of wild-type until 3 months of age
• 29% reduction in body weight at 7 months of age relative to wild-type

reproductive system
• failure to undergo lobuloalveolar development during pregnancy due to impaired development and proliferation of mammary epithelia cells (J:74508)
• evident around 3.5 months of age (J:74508)
• more pronounced at 18 months of age, at which point mature sperm was undetected (J:74508)
• 44% reduction in testicular weight relative to wild-type by 3 to 5 months of age (J:74508)
• mature spermatocytes undetected in the seminiferous tubules at 18 months of age (J:74508)

vision/eye
• approximately 50% of mice exhibited retinal degeneration at 4 to 6 months of age, with progression and increased penetrance at 16 months of age

integument
• failure to undergo lobuloalveolar development during pregnancy due to impaired development and proliferation of mammary epithelia cells (J:74508)


Mouse Genome Informatics
cx4
    Pin1tm1Tuc/Pin1tm1Tuc
Tg(APPSWE)2576Kha/0

involves: 129 * 129P2/OlaHsd * C57BL/6 * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• levels of insoluble amyloid beta, especially amyloid beta42, are increased by 46% at 6 months of age compared to single Tg(APPSWE)2576Kha hemizygous controls
• however, levels of soluble amyloid beta40 and amyloid beta42 are not affected
• amyloid beta42 predominately accumulates in multivesicular bodies of neurons
• levels of total APPs and beta-APPs are increased by about 3-fold, but levels of alpha-APPs are reduced by about 50% compared to single Tg(APPSWE)2576Kha hemizygous controls, indicating an increase in amyloidogenic versus non-amyloidogenic APP processing and thus elevation of the amyloid beta42

homeostasis/metabolism
• levels of insoluble amyloid beta, especially amyloid beta42, are increased by 46% at 6 months of age compared to single Tg(APPSWE)2576Kha hemizygous controls
• however, levels of soluble amyloid beta40 and amyloid beta42 are not affected
• amyloid beta42 predominately accumulates in multivesicular bodies of neurons
• levels of total APPs and beta-APPs are increased by about 3-fold, but levels of alpha-APPs are reduced by about 50% compared to single Tg(APPSWE)2576Kha hemizygous controls, indicating an increase in amyloidogenic versus non-amyloidogenic APP processing and thus elevation of the amyloid beta42

Mouse Models of Human Disease
OMIM IDRef(s)
Alzheimer Disease; AD 104300 J:107132