Phenotypes associated with this allele

• Allele Symbol: Echs1^em1Lutzy
• Allele Name: endonuclease-mediated mutation 1, Cathy Lutz
• Allele ID: MGI:8282681
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Echs1^em1Lutzy/Echs1^em1Lutzy	C57BL/6J-Echs1^em1Lutzy/Mmjax	MGI:8293273
ht2	Echs1^em1Lutzy/Echs1^em3Lutzy	C57BL/6J-Echs1^em1Lutzy/Echs1^em3Lutzy	MGI:8286541

Genotype
MGI:8293273

hm1

• Allelic Composition: Echs1^em1Lutzy/Echs1^em1Lutzy
• Genetic Background: C57BL/6J-Echs1^em1Lutzy/Mmjax

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

normal phenotype

no abnormal phenotype detected ( J:378496 )

• viable and fertile despite having only approximately 12% of normal levels of ECHS1 in heart, liver, and brain

Genotype
MGI:8286541

ht2

• Allelic Composition: Echs1^em1Lutzy/Echs1^em3Lutzy
• Genetic Background: C57BL/6J-Echs1^em1Lutzy/Echs1^em3Lutzy

mortality/aging

increased susceptibility to xenobiotic induced morbidity/mortality ( J:378496 )

• A third of compound heterozygotes die after being injected with a dose of LPS that 100% of wildtype controls survive, and the surviving mutants have delayed weight recovery and failure to thrive

behavior/neurological

abnormal sleep pattern ( J:378496 )

• increased active awake state, normal awake inactive state, and decreased slow wave sleep

decreased slow-wave sleep duration ( J:378496 )

increased thermal nociceptive threshold ( J:378496 )

• although no differences are found in sensory gating during pre-pulse inhibition using auditory stimuli, there is increased latency to withdraw the foot from the hotplate

impaired exercise endurance ( J:378496 )

seizures ( J:378496 )

• EEG traces show increased epileptiform discharges

increased susceptibility to pharmacologically induced seizures ( J:378496 )

• Although spontaneous seizures are not observed, compound heterozygotes have increased pentylenetetrazol-induced seizure numbers and severity and this in increased with a 3% increase in dietary valine

cellular

microgliosis ( J:378496 )

• normal brain development and no degeneration seen at 18 months of age compared with wildtype, but twice as many microglia are found in the striatum

abnormal mitochondrial physiology ( J:378496 )

• exercise fatigue with elevated post-exercise lactate levels, and abnormal levels of various amino acids, both branched-chain and non-branched chain, in the liver at 3 months

nervous system

seizures ( J:378496 )

• EEG traces show increased epileptiform discharges

increased susceptibility to pharmacologically induced seizures ( J:378496 )

• Although spontaneous seizures are not observed, compound heterozygotes have increased pentylenetetrazol-induced seizure numbers and severity and this in increased with a 3% increase in dietary valine

microgliosis ( J:378496 )

• normal brain development and no degeneration seen at 18 months of age compared with wildtype, but twice as many microglia are found in the striatum

abnormal striatum morphology ( J:378496 )

• normal brain development and no degeneration seen at 18 months of age compared with wildtype, but twice as many microglia are found in the striatum

abnormal brain delta wave pattern ( J:378496 )

• increased as measured by EEG at approximately 3.5 month of age

abnormal brain theta wave pattern ( J:378496 )

• increased as measured by EEG at approximately 3.5 month of age

hematopoietic system

microgliosis ( J:378496 )

• normal brain development and no degeneration seen at 18 months of age compared with wildtype, but twice as many microglia are found in the striatum

homeostasis/metabolism

impaired exercise endurance ( J:378496 )

abnormal homeostasis ( J:378496 )

abnormal amino acid level ( J:378496 )

• Assessment of liver amino acid content at 3 months of age found only a slight elevation in branched chain amino acids, but a significant elevation in approximately 60% of non-branched chain amino acids

abnormal response to exercise ( J:378496 )

• no differences in anxiety or fear conditioning, but compound heterozygotes display a progressive reduction in latency to fall from a rotarod by the eighth trial, attributed to exercise fatigue, with shortened run distance and higher than normal post-exercise lactate levels

increased susceptibility to xenobiotic induced morbidity/mortality ( J:378496 )

• A third of compound heterozygotes die after being injected with a dose of LPS that 100% of wildtype controls survive, and the surviving mutants have delayed weight recovery and failure to thrive

immune system

microgliosis ( J:378496 )

• normal brain development and no degeneration seen at 18 months of age compared with wildtype, but twice as many microglia are found in the striatum

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency		DOID:0070540	OMIM:616277	J:378496