Phenotypes associated with this allele

• Allele Symbol: Smdt1^em1Fink
• Allele Name: endonuclease-mediated mutation 1, Toren Finkel
• Allele ID: MGI:6457286
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Smdt1^em1Fink/Smdt1^em1Fink	involves: C57BL/6J * CBA	MGI:6457371
ht2	Smdt1^em1Fink/Smdt1^+	involves: C57BL/6J * CBA	MGI:6457372
cx3	Micu1^em#Fink/Micu1^em#Fink Smdt1^em1Fink/Smdt1^+	involves: C57BL/6J * C57BL/6N * CBA	MGI:6457369

Genotype
MGI:6457371

hm1

• Allelic Composition: Smdt1^em1Fink/Smdt1^em1Fink
• Genetic Background: involves: C57BL/6J * CBA

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

normal phenotype

no abnormal phenotype detected ( J:238984 )

• mice exhibit normal survival, weight, coordination, and muscle strength

Genotype
MGI:6457372

ht2

• Allelic Composition: Smdt1^em1Fink/Smdt1⁺
• Genetic Background: involves: C57BL/6J * CBA

cellular

cellular phenotype ( J:238984 )

N • mitochondrial calcium uptake is normal

Genotype
MGI:6457369

cx3

• Allelic Composition: Micu1^em#Fink/Micu1^em#Fink; Smdt1^em1Fink/Smdt1⁺
• Genetic Background: involves: C57BL/6J * C57BL/6N * CBA

mortality/aging

mortality/aging ( J:238984 )

N • mice exhibit normal survival

cellular

abnormal mitochondrial physiology ( J:238984 )

• liver mitochondria exhibit slightly impaired calcium gate-keeping function with 2-fold higher rates of calcium uptake at low extra-mitochondrial calcium levels and reduced rates of calcium uptake at high calcium concentrations compared with control mice

• however, brain matrix calcium levels are normal

behavior/neurological

impaired coordination ( J:238984 )

• improved compared to Micu1^em#Fink homozygotes

decreased grip strength ( J:238984 )

• improved compared to Micu1^em#Fink homozygotes

immune system

decreased B cell number ( J:238984 )

• improved compared to Micu1^em#Fink homozygotes

growth/size/body

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

N • mice exhibit normal body weight

hematopoietic system

decreased B cell number ( J:238984 )

• improved compared to Micu1^em#Fink homozygotes

muscle

muscle phenotype ( J:238984 )

N • mice exhibit normal skeletal muscles

nervous system

nervous system phenotype ( J:238984 )

N • mice exhibit normal cerebellar morphology