Phenotypes Associated with This Genotype

Genotype
MGI:6887866

• Allelic Composition: Litaf^tm1.1Cwc/Litaf^tm1.1Cwc
• Genetic Background: B6.Cg-Litaf^tm1.1Cwc

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

cellular

cellular phenotype ( J:314784 )

N • normal subcellular localization

abnormal vacuole morphology ( J:314784 )

• empty vacuoles without intraluminal vesicles in MEFs

• enlarged vacuoles with electron-dense granules in MEFs

• multilamellar cisternal compartments near vacuoles in MEFs

abnormal lysosome physiology ( J:314784 )

• reduced secreted levels in exosomes from MEFs

abnormal exocytosis ( J:314784 )

• reduced secreted levels in exosomes from MEFs

behavior/neurological

limb paralysis ( J:314784 )

• in 15% of mice older than 18 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 1C		DOID:0110151	OMIM:601098	J:314784