Phenotypes associated with this allele

• Allele Symbol: Washc4^em1Ssod
• Allele Name: endonuclease-mediated mutation 1, Scott H Soderling
• Allele ID: MGI:6783463
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Washc4^em1Ssod/Washc4^em1Ssod	involves: C57BL/6J * SJL/J	MGI:6783465

Genotype
MGI:6783465

hm1

• Allelic Composition: Washc4^em1Ssod/Washc4^em1Ssod
• Genetic Background: involves: C57BL/6J * SJL/J

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

behavior/neurological

impaired cued conditioning behavior ( J:303795 )

• decreased conditioned fear memory recall (reduced freezing) in paired tone and foot shock test

fast extinction of fear memory ( J:303795 )

• decreased conditioned fear memory recall (reduced freezing) in paired tone and foot shock test

abnormal motor capabilities/coordination/movement ( J:303795 )

• normal startle reflex when presented with electric foot shock or audio tones

impaired coordination ( J:303795 )

• reduced latency to fall in rotarod test at age 5.5 months

impaired limb coordination ( J:303795 )

• altered gait symmetry (reduced synchronization of strides) at age 5.5 months; most pronounced in rear limbs

• normal at age P45

abnormal gait ( J:303795 )

• slow stride with reduced stride width at age 5.5 months; most pronounced in rear limbs

• normal at age P45

long stride length ( J:303795 )

• at age 5.5 months; most pronounced in rear limbs

• normal at age P45

cellular

abnormal lysosome morphology ( J:303795 )

• larger early endosomes and lysosomes in cultured cortical neurons from newborn mice

• fewer lysosomes in cultured cortical neurons from newborn mice

• lipofuscin accumulation in lysosomal residual bodies in primary motor cortex neurons at age 7 months

• normal number of early endosomes in cultured cortical neurons from newborn mice

increased neuron apoptosis ( J:303795 )

• in motor cortex at age 10 months

• normal apoptosis in motor cortex at age P42

lysosomal protein accumulation ( J:303795 )

• increased levels of lysosomal cathepsin proteases and lysosomal hydrolases in brain

homeostasis/metabolism

abnormal protein level ( J:303795 )

• increased levels of chaperones in ER in brain

• decreased levels of post-synaptic proteins in brain synapses

nervous system

increased neuron apoptosis ( J:303795 )

• in motor cortex at age 10 months

• normal apoptosis in motor cortex at age P42

abnormal excitatory synapse morphology ( J:303795 )

• fewer excitatory synapses in adult brain

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Wiskott-Aldrich syndrome		DOID:9169	OMIM:301000	J:303795