Phenotypes associated with this allele

• Allele Symbol: Echs1^em3Lutzy
• Allele Name: endonuclease-mediated mutation 3, Cathy Lutz
• Allele ID: MGI:8282682
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Echs1^em3Lutzy/Echs1^em3Lutzy	C57BL/6J-Echs1^em3Lutzy/Lutzy	MGI:8292151
ht2	Echs1^em1Lutzy/Echs1^em3Lutzy	C57BL/6J-Echs1^em1Lutzy/Echs1^em3Lutzy	MGI:8286541

Genotype
MGI:8292151

hm1

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

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

mortality/aging

prenatal lethality, complete penetrance ( J:378496 )

• intercrossing heterozygotes fails to produce homozygotes

Genotype
MGI:8286541

ht2

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

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 )

• increased susceptibility to pentylenetetrazol induced seizures an resulting death

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

nervous system

seizures ( J:378496 )

• EEG traces show increased epileptiform discharges

increased susceptibility to pharmacologically induced seizures ( J:378496 )

• increased susceptibility to pentylenetetrazol induced seizures an resulting death

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 response to exercise ( J:378496 )

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