Phenotypes associated with this allele

• Allele Symbol: Sprtn^tm1Yjm
• Allele Name: targeted mutation 1, Yuichi J Machida
• Allele ID: MGI:5752649
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sprtn^tm1Yjm/Sprtn^tm1Yjm	involves: 129S/SvEv * C57BL/6	MGI:5752765
ht2	Sprtn^tm1Yjm/Sprtn^tm1.2Yjm	involves: 129S/SvEv * C57BL/6	MGI:5752766

Genotype
MGI:5752765

hm1

• Allelic Composition: Sprtn^tm1Yjm/Sprtn^tm1Yjm
• Genetic Background: involves: 129S/SvEv * C57BL/6

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

mortality/aging

premature aging ( J:225198 )

• 12 month old mice exhibit lordokyphosis, cataracts, cachexia, reduced total fat mass and decreased exercise performance on a treadmill compared with control mice

adipose tissue

decreased white fat cell size ( J:225198 )

• in inguinal fat cells of 12 month old mice

decreased gonadal fat pad weight ( J:225198 )

• in 12 month old mice

decreased inguinal fat pad weight ( J:225198 )

• in 12 month old mice

decreased renal fat pad weight ( J:225198 )

• in 12 month old mice

decreased interscapular fat pad weight ( J:225198 )

• in 12 month old mice

decreased total fat pad weight ( J:225198 )

• in 12 month old mice

skeleton

skeleton phenotype ( J:225198 )

N • mice exhibit normal bone mineral content and density

kyphosis ( J:225198 )

• in 12 month old mice

lordosis ( J:225198 )

• in 12 month old mice

growth/size/body

decreased body size ( J:225198 )

• dwarfism in both male and female mice that persists into adulthood

cachexia ( J:225198 )

• in 12 month old mice

cellular

early cellular replicative senescence ( J:225198 )

• in inguinal fat cells of 12 month old mice

chromosomal instability ( J:225198 )

• in lung fibroblasts

homeostasis/metabolism

impaired exercise endurance ( J:225198 )

• 12 month old mice exhibit reduced duration of exercise, distance travelled and overall work performance on a treadmill compared with control mice

vision/eye

cataract ( J:225198 )

• in 12 month old mice

muscle

muscle phenotype ( J:225198 )

N • mice exhibit normal gastrocnemius, abdominal and paraspinal muscle fiber diameters

behavior/neurological

impaired exercise endurance ( J:225198 )

• 12 month old mice exhibit reduced duration of exercise, distance travelled and overall work performance on a treadmill compared with control mice

Genotype
MGI:5752766

ht2

• Allelic Composition: Sprtn^tm1Yjm/Sprtn^tm1.2Yjm
• Genetic Background: involves: 129S/SvEv * C57BL/6

mortality/aging

preweaning lethality, complete penetrance ( J:225198 )

• no mice are produced from crossing heterozygous mice

cellular

abnormal cell nucleus morphology ( J:225198 )

• increased numbers of micronuclei in mouse embryonic fibroblasts indicating genomic instability

decreased fibroblast proliferation ( J:225198 )

• in mouse embryonic fibroblasts

chromosomal instability ( J:225198 )

• increased numbers of micronuclei in mouse embryonic fibroblasts indicating genomic instability