Phenotypes associated with this allele

• Allele Symbol: Micu1^em#Fink
• Allele Name: endonuclease-mediated mutation #, Toren Finkel
• Allele ID: MGI:6158962
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Micu1^em#Fink/Micu1^em#Fink	C57BL/6N-Micu1^em#Fink	MGI:6457368
cx2	Micu1^em#Fink/Micu1^em#Fink Smdt1^em1Fink/Smdt1^+	involves: C57BL/6J * C57BL/6N * CBA	MGI:6457369
cx3	Micu1^em#Fink/Micu1^em#Fink Smdt1^em2Fink/Smdt1^+	involves: C57BL/6J * C57BL/6N * CBA	MGI:6457370

Genotype
MGI:6457368

hm1

• Allelic Composition: Micu1^em#Fink/Micu1^em#Fink
• Genetic Background: C57BL/6N-Micu1^em#Fink

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:238984 )

• fewer than expected mice are produced at 1 week by breeding heterozygotes

• however, survival at P1 is normal

cellular

abnormal mitochondrial morphology ( J:238984 )

• in brain and skeletal muscle mitochondria

increased B cell apoptosis ( J:238984 )

abnormal mitochondrial physiology ( J:238984 )

• when challenged with low concentration of extra-mitochondrial calcium, liver or brain mitochondria exhibit increased (6-fold) calcium uptake compared with wild-type mitochondria

• when challenged with high concentration of extra-mitochondrial calcium, liver or brain mitochondria exhibit decreased calcium uptake compared with wild-type mitochondria

• age does not improve calcium uptake defects in liver mitochondria

• at low concentrations, mouse embryonic fibroblasts exhibit increased calcium uptake compared with wild-type mice

oxidative stress ( J:238984 )

• increased reactive oxygen species (ROS) in B cells and thymus-derived T cells

• however, aged mice exhibit normal ROS levels

behavior/neurological

ataxia ( J:238984 )

impaired coordination ( J:238984 )

• severe at 1 month of age

decreased grip strength ( J:238984 )

• at 4 weeks of age

muscle

decreased skeletal muscle fiber number ( J:238984 )

abnormal muscle physiology ( J:238984 )

• reduced ATP levels, increased calcium, and increased lactate levels in the skeletal muscle

• however, age rescues calcium, ATP, and muscle lactate

homeostasis/metabolism

increased circulating lactate level ( J:238984 )

growth/size/body

decreased birth body size ( J:238984 )

• at 1 week of age in female and male mice

• however, age improves body weight

• at E20

nervous system

abnormal brain development ( J:238984 )

• outer granular layer persists in 12 day old mice unlike in wild-type mice

abnormal cerebellum development ( J:238984 )

• underdeveloped

abnormal Purkinje cell dendrite morphology ( J:238984 )

• abnormal postnatal arborization

immune system

increased B cell apoptosis ( J:238984 )

decreased B cell number ( J:238984 )

• however, aged mice exhibit normal B cell abundance

decreased follicular B cell number ( J:238984 )

hematopoietic system

increased B cell apoptosis ( J:238984 )

decreased B cell number ( J:238984 )

• however, aged mice exhibit normal B cell abundance

decreased follicular B cell number ( J:238984 )

Genotype
MGI:6457369

cx2

• 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

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