Phenotypes associated with this allele

• Allele Symbol: Sirt1^tm2.1Mcby
• Allele Name: targeted mutation 2.1, Michael W McBurney
• Allele ID: MGI:5306956
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sirt1^tm2.1Mcby/Sirt1^tm2.1Mcby	involves: 129S1/Sv * 129X1/SvJ	MGI:5306958
hm2	Sirt1^tm2.1Mcby/Sirt1^tm2.1Mcby	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:5306957

Genotype
MGI:5306958

hm1

• Allelic Composition: Sirt1^tm2.1Mcby/Sirt1^tm2.1Mcby
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

craniofacial

abnormal craniofacial morphology ( J:241633 )

mortality/aging

perinatal lethality ( J:241633 )

postnatal lethality, incomplete penetrance ( J:180628 )

• fewer than expected mice are found at weaning

digestive/alimentary system

abnormal salivary gland morphology ( J:241633 )

• lymphocye infiltration of salivary gland in most mice

endocrine/exocrine glands

abnormal salivary gland morphology ( J:241633 )

• lymphocye infiltration of salivary gland in most mice

abnormal lacrimal gland morphology ( J:241633 )

• lymphocyte infiltration of lacrimal gland

growth/size/body

decreased body size ( J:241633 )

reproductive system

male infertility ( J:241633 )

♂

respiratory system

hyperpnea ( J:241633 )

• elevated respiration

vision/eye

abnormal lacrimal gland morphology ( J:241633 )

• lymphocyte infiltration of lacrimal gland

abnormal eyelid morphology ( J:241633 )

• eyelid defect in some mice

Genotype
MGI:5306957

hm2

• Allelic Composition: Sirt1^tm2.1Mcby/Sirt1^tm2.1Mcby
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

mortality/aging

postnatal lethality, incomplete penetrance ( J:180628 )

• fewer than expected mice are found at weaning

cellular

oligozoospermia ( J:180628 )

♂ • fewer than normal numbers of mature sperm are present in the seminiferous tubules and cauda epididymides

immotile sperm ( J:180628 )

♂ • sperm in the epididymis are immotile

reproductive system

immotile sperm ( J:180628 )

♂ • sperm in the epididymis are immotile

abnormal spermatogenesis ( J:180628 )

♂ • immature apoptotic germ cells are seen in the cauda epididymides

oligozoospermia ( J:180628 )

♂ • fewer than normal numbers of mature sperm are present in the seminiferous tubules and cauda epididymides

male infertility ( J:180628 )

♂ • fail to sire litters with wild-type females but do create copulation plugs

homeostasis/metabolism

abnormal energy expenditure ( J:180628 )

• initially mice lose weight more slowly on a calorie restricted diet

increased oxygen consumption ( J:180628 )

• increased oxygen consumption during both active and inactive periods relative to wild-type littermates

• excess energy consumption is not due to increased activity levels

• calorie restriction initially decreases oxygen consumption but this returns to ad libitum levels with time

decreased respiratory quotient ( J:180628 )

• after 1 month but not after 2 months of calorie restriction

abnormal glucose homeostasis ( J:180628 )

decreased circulating insulin level ( J:180628 )

• in the unfed state in calorie restricted mice

abnormal glucose tolerance ( J:180628 )

• slower glucose clearance in ad libitum fed mice

craniofacial

short snout ( J:180628 )

adipose tissue

decreased white adipose tissue amount ( J:180628 )

growth/size/body

enlarged heart ( J:180628 )

• proportionally larger

short snout ( J:180628 )

enlarged pancreas ( J:180628 )

• proportionally larger

decreased body size ( J:180628 )

• 20-25% smaller compared to wild-type littermates

enlarged spleen ( J:180628 )

• proportionally larger

endocrine/exocrine glands

enlarged pancreas ( J:180628 )

• proportionally larger

cardiovascular system

enlarged heart ( J:180628 )

• proportionally larger

hematopoietic system

enlarged spleen ( J:180628 )

• proportionally larger

immune system

enlarged spleen ( J:180628 )

• proportionally larger

nervous system

increased brain size ( J:180628 )

• proportionally larger

behavior/neurological

increased food intake ( J:180628 )

• increase in food consumption relative to body weight in ad libitum fed mice but not in calorie restricted mice