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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Pin1tm1Tuc
targeted mutation 1, Takafumi Uchida
MGI:2177943
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Pin1tm1Tuc/Pin1tm1Tuc B6.129P2-Pin1tm1Tuc MGI:2664765
hm2
 		Pin1tm1Tuc/Pin1tm1Tuc involves: 129 * 129P2/OlaHsd * C57BL/6 MGI:5433612
hm3
 		Pin1tm1Tuc/Pin1tm1Tuc involves: 129P2/OlaHsd * C57BL/6 MGI:2177946
cx4
 		Pin1tm1Tuc/Pin1tm1Tuc
Tg(APPSWE)2576Kha/0 		involves: 129 * 129P2/OlaHsd * C57BL/6 * SJL MGI:5433613


Genotype
MGI:2664765
hm1
Allelic
Composition		 Pin1tm1Tuc/Pin1tm1Tuc
Genetic
Background		 B6.129P2-Pin1tm1Tuc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pin1tm1Tuc mutation (2 available); any Pin1 mutation (19 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
endocrine/exocrine glands
abnormal ovarian follicle number ( J:83663 )
• ovaries contained fewer follicles

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

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




Genotype
MGI:5433612
hm2
Allelic
Composition		 Pin1tm1Tuc/Pin1tm1Tuc
Genetic
Background		 involves: 129 * 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pin1tm1Tuc mutation (2 available); any Pin1 mutation (19 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
amyloid beta deposits ( J:107132 )
• 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
amyloid beta deposits ( J:107132 )
• 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
 DO ID OMIM ID(s) Ref(s)
Alzheimer's disease DOID:10652 J:107132




Genotype
MGI:2177946
hm3
Allelic
Composition		 Pin1tm1Tuc/Pin1tm1Tuc
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pin1tm1Tuc mutation (2 available); any Pin1 mutation (19 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Reduced body weight and testicular atrophy in Pin1tm1Tuc/Pin1tm1Tuc mice

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

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

vision/eye
increased susceptibility to age-related retinal degeneration ( J:74508 )
• 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
abnormal mammary gland growth during pregnancy ( J:74508 )
• failure to undergo lobuloalveolar development during pregnancy due to impaired development and proliferation of mammary epithelia cells

cellular
azoospermia ( J:74508 )
• mature spermatocytes undetected in the seminiferous tubules at 18 months of age




Genotype
MGI:5433613
cx4
Allelic
Composition		 Pin1tm1Tuc/Pin1tm1Tuc
Tg(APPSWE)2576Kha/0
Genetic
Background		 involves: 129 * 129P2/OlaHsd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pin1tm1Tuc mutation (2 available); any Pin1 mutation (19 available)
Tg(APPSWE)2576Kha mutation (5 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
amyloid beta deposits ( J:107132 )
• 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
amyloid beta deposits ( J:107132 )
• 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
 DO ID OMIM ID(s) Ref(s)
Alzheimer's disease DOID:10652 J:107132




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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory