Chat^tm1Mlt
Targeted Allele Detail

Summary

• Symbol: Chat^tm1Mlt
• Name: choline O-acetyltransferase; targeted mutation 1, Jacques Mallet
• MGI ID: MGI:5583868
• Synonyms: Chat^lox
• Gene: Chat Location: Chr14:32130160-32187866 bp, - strand Genetic Position: Chr14, 19.4 cM
• Alliance: Chat^tm1Mlt page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:212048
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: A loxP-flanked neomycin cassette was inserted upstream of exon 8 and a third loxP sequence in intron 8. Cre mediated recombinase removed the neo cassette. Removal of exon 8 will result in frame-shift mutation with truncated protein. (J:212048)

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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cn1	Chat^tm1Mlt/Chat^tm1Mlt Tg(SLC18A3-cre)KMisa/0	involves: 129 * C57BL/6

Phenotypes:

Affected Systems	cn1
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behavior/neurological	√
abnormal habituation to a new environment	√
tremors	√
tail dragging	√
abnormal gait	√
decreased vertical activity	√
decreased locomotor activity	√
digestive/alimentary system	√
rectal prolapse	√
growth/size/body	√
decreased body weight	√
limbs/digits/tail	√
abnormal gastrocnemius morphology	√
abnormal soleus morphology	√
abnormal tail morphology	√
mortality/aging	√
premature death	√
muscle	√
abnormal muscle morphology	√
abnormal gastrocnemius morphology	√
abnormal soleus morphology	√
skeletal muscle fibrosis	√
skeletal muscle endomysial fibrosis	√
muscular atrophy	√
muscle weakness	√
nervous system	N
nervous system phenotype	N
skeleton	√
kyphosis	√
vision/eye	√
cornea opacity	√

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

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

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 Chat Mutation: 59 strains or lines available

References

• Original: J:212048 Lecomte MJ, et al., Selective disruption of acetylcholine synthesis in subsets of motor neurons: a new model of late-onset motor neuron disease. Neurobiol Dis. 2014 May;65:102-11
• All: 3 reference(s)