Phenotypes associated with this allele

• Allele Symbol: Smdt1^em2Fink
• Allele Name: endonuclease-mediated mutation 2, Toren Finkel
• Allele ID: MGI:6457287
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Smdt1^em2Fink/Smdt1^em2Fink	involves: C57BL/6J * C57BL/6N * CBA/J	MGI:6458043
hm2	Smdt1^em2Fink/Smdt1^em2Fink	involves: C57BL/6J * C57BL/6N * CBA/J * CD-1	MGI:6458045
cx3	Micu1^em#Fink/Micu1^em#Fink Smdt1^em2Fink/Smdt1^+	involves: C57BL/6J * C57BL/6N * CBA	MGI:6457370

Genotype
MGI:6458043

hm1

• Allelic Composition: Smdt1^em2Fink/Smdt1^em2Fink
• Genetic Background: involves: C57BL/6J * C57BL/6N * CBA/J

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:287405 )

• mice on an mostly C57BL/6N background exhibit near complete lethality compared with mice on a hybrid C57BL/6N and CD-1 background

cellular

abnormal fibroblast physiology ( J:287405 )

• impaired calcium uptake

abnormal mitochondrial physiology ( J:287405 )

• impaired calcium intake in heart mitochondria

• reduced calcium intramitochondrial in skeletal muscle stimulated with caffeine through permeability transition pores

Genotype
MGI:6458045

hm2

• Allelic Composition: Smdt1^em2Fink/Smdt1^em2Fink
• Genetic Background: involves: C57BL/6J * C57BL/6N * CBA/J * CD-1

mortality/aging

preweaning lethality, incomplete penetrance ( J:287405 )

• Background Sensitivity: mice on a hybrid C57BL/6N and CD-1 background exhibit improved survival compared with mice on a mostly C57BL/6N background although fewer than half of expected mice are produced from breeding heterozygotes

growth/size/body

decreased body weight ( J:287405 )

• slight

cardiovascular system

cardiovascular system phenotype ( J:287405 )

N • mice exhibit normal basal heart structure and function, including response to beta-adrenergic stimulation and response to ischemia and reperfusion injury

behavior/neurological

behavior/neurological phenotype ( J:287405 )

N • mice exhibit normal voluntary physical activity and grip strength

adipose tissue

decreased total body fat amount ( J:287405 )

♀ • slight in female mice

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:287405 )

N • mice exhibit normal oxygen consumption, carbon dioxide production, and exercise tolerance

Genotype
MGI:6457370

cx3

• Allelic Composition: Micu1^em#Fink/Micu1^em#Fink; Smdt1^em2Fink/Smdt1⁺
• Genetic Background: involves: C57BL/6J * C57BL/6N * CBA

mortality/aging

mortality/aging ( J:238984 )

N • mice exhibit normal survival

growth/size/body

growth/size/body region phenotype ( J:238984 )

N • mice exhibit normal body weight