Litaf^tm1.2Cwc
Targeted Allele Detail

Summary

• Symbol: Litaf^tm1.2Cwc
• Name: LPS-induced TN factor; targeted mutation 1.2, Chi-Wing Chow
• MGI ID: MGI:6887479
• Synonyms: Simple^-
• Gene: Litaf Location: Chr16:10777137-10810985 bp, - strand Genetic Position: Chr16, 6.28 cM, cytoband B1-B3
• Alliance: Litaf^tm1.2Cwc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:314784
• Parent Cell Line: PTL1 (ES Cell)
• Strain of Origin: (129S6/SvEvTac x C57BL/6J)F1

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Threonine codon 115 (ACC) in exon 3 was changed to asparagine (AAC)(p.T115N) and a loxP site was inserted into intron 2 and an FRT site flanked neomycin resistance gene cassette and a second loxP site into intron 3. The neo cassette was removed through subsequent flp-mediated recombination and exon 3 deleted through cre-mediated recombination. Immunoblot experiments on MEFs confirmed absence of protein expression from this allele. (J:314784)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Litaf^tm1.2Cwc/Litaf^tm1.2Cwc	C57BL/6-Litaf^tm1.2Cwc

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
cellular	√
abnormal vacuole morphology	√
abnormal lysosome physiology	√
abnormal exocytosis	√

View phenotypes and curated references for all genotypes (concatenated display).

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Litaf Mutation: 14 strains or lines available

References

• Original: J:314784 Zhu H, et al., Mutation of SIMPLE in Charcot-Marie-Tooth 1C alters production of exosomes. Mol Biol Cell. 2013 Jun;24(11):1619-37, S1-3
• All: 1 reference(s)