Phenotypes associated with this allele

• Allele Symbol: Elp6⁺
• Allele Name: wild type
• Allele ID: MGI:3609326
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Elp6^em1(IMPC)J/Elp6^+	C57BL/6NJ-Elp6^em1(IMPC)J/Mmjax	MGI:6731308
ht2	Elp6^em1Bjw/Elp6^+	Not Specified	MGI:8275322

Genotype
MGI:6731308

ht1

• Allelic Composition: Elp6^em1(IMPC)J/Elp6⁺
• Genetic Background: C57BL/6NJ-Elp6^em1(IMPC)J/Mmjax

Data Sources

IMPC Data for Elp6

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

homeostasis/metabolism

increased circulating alanine transaminase level ( J:211773 )

♂

IMPC - JAX

increased circulating aspartate transaminase level ( J:211773 )

♂

IMPC - JAX

Genotype
MGI:8275322

ht2

• Allelic Composition: Elp6^em1Bjw/Elp6⁺
• Genetic Background: Not Specified

behavior/neurological

limb grasping ( J:360936 )

• hindlimb clasping

tremors ( J:360936 )

ataxia ( J:360936 )

impaired balance ( J:360936 )

impaired limb coordination ( J:360936 )

increased locomotor activity ( J:360936 )

• increased spontaneous activity

growth/size/body

growth/size/body region phenotype ( J:360936 )

• no microcephaly or developmental delay

slow postnatal weight gain ( J:360936 )

• owing to reduced feeding ability as a result of motor defects

mortality/aging

premature death ( J:360936 )

• death before age 9 months

muscle

muscle weakness ( J:360936 )

nervous system

nervous system phenotype ( J:360936 )

• normal interneurons and myelin in forebrain at age 60 days

• no microcephaly

abnormal hippocampal pyramidal neuron dendrite morphology ( J:360936 )

• shorter length and less branching at age 60 days

• normal dendritic spine density

abnormal excitatory postsynaptic potential ( J:360936 )

• reduced field excitatory postsynaptic potential (fEPSP) after applying high-frequency stimulation (HFS) to trigger long-term potentiation (LTP) at Schaffer collateral to CA1 pyramidal neuron synapse at age 60 days