Phenotypes associated with this allele

• Allele Symbol: Sirt1^tm1Fwa
• Allele Name: targeted mutation 1, Frederick W Alt
• Allele ID: MGI:2677354
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sirt1^tm1Fwa/Sirt1^tm1Fwa	involves: 129/Sv * 129S6/SvEvTac	MGI:2677376

Genotype
MGI:2677376

hm1

• Allelic Composition: Sirt1^tm1Fwa/Sirt1^tm1Fwa
• Genetic Background: involves: 129/Sv * 129S6/SvEvTac

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

Developmental abnormalities in Sirt1^tm1Fwa/Sirt1^tm1Fwa mice.

mortality/aging

perinatal lethality, incomplete penetrance ( J:85542 )

• though present in Mendelian ratios at E18.5, homozygous mutant mice represented only 10% of progeny at birth

postnatal lethality, incomplete penetrance ( J:85542 )

• 67% had died within 1 week of birth

cardiovascular system

abnormal heart development ( J:85542 )

• exhibited by mice dying prior to adulthood

abnormal atrioventricular valve morphology ( J:85542 )

• 3 of 5 E18.5 mutants have abnormally elongated atrioventricular valves

atrial septal defect ( J:85542 )

• 1 of 5 E18.5 mutants has an atrial septal defect

ventricular septal defect ( J:85542 )

• 1 of 5 E18.5 mutants has a ventricular septal defect

embryo

decreased embryo size ( J:85542 )

growth/size/body

decreased embryo size ( J:85542 )

decreased body size ( J:85542 )

immune system

immune system phenotype ( J:85542 )

N • normal T and B cell development

reproductive system

oligozoospermia ( J:85542 )

♂

vision/eye

abnormal eye morphology ( J:85542 )

• eyes are irregularly shaped

abnormal eye development ( J:85542 )

• eyes exhibit abnormal closure of the optic fissure

microphthalmia ( J:85542 )

abnormal retina layer morphology ( J:85542 )

• in adults, multiple retinal cell layers are significantly thinner

abnormal retina photoreceptor morphology ( J:85542 )

• the inner and outer segments of the photoreceptor cells are difficult to discern

disorganized retina inner nuclear layer ( J:85542 )

• in some areas, the inner nuclear layer is disorganized with abnormal rosette-like structures

disorganized retina outer nuclear layer ( J:85542 )

• in some areas, the outer nuclear layer is disorganized, with abnormal rosette-like structures

nervous system

exencephaly ( J:85542 )

• observed in some embryos

abnormal retina photoreceptor morphology ( J:85542 )

• the inner and outer segments of the photoreceptor cells are difficult to discern

cellular

oligozoospermia ( J:85542 )

♂

increased cellular sensitivity to ionizing radiation ( J:85542 )

• mutants show an increase in ionizing irradiation-induced apoptosis in thymocytes compared to wild-type