Phenotypes associated with this allele

• Allele Symbol: Litaf^tm1.1Cwc
• Allele Name: targeted mutation 1.1, Chi-Wing Chow
• Allele ID: MGI:6887477
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Litaf^tm1.1Cwc/Litaf^tm1.1Cwc	B6.Cg-Litaf^tm1.1Cwc	MGI:6887866
ht2	Litaf^tm1.1Cwc/Litaf^+	B6.Cg-Litaf^tm1.1Cwc	MGI:6887867

Genotype
MGI:6887866

hm1

• 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

Genotype
MGI:6887867

ht2

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

cellular

cellular phenotype ( J:314784 )

• 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

• enlarged RAB7-positive late endosomes in MEFs

• enlarged LAMP1- and LAMP2-positive lysosomal compartments in MEFs

• diffused EEA1-positive early endosomes with smaller punctae in MEFs

• normal LBPA-positive multi-vesicular bodies (MVBs) 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