Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Chattm1.1Jrs
Name:	choline acetyltransferase; targeted mutation 1.1, Joshua R Sanes
MGI ID:	MGI:3045900
Synonyms:	ChAT-
Gene:	Chat  Location: Chr14:32130160-32187866 bp, - strand  Genetic Position: Chr14, 19.4 cM
Alliance:	Chattm1.1Jrs page

Germline Transmission:	Earliest citation of germline transmission: J:91066
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	Not Specified

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Chattm1Jrs-carring mice were crossed with transgenic mice expressing cre in the germ line to produce this allele in which exons 3 and 4 were replaced with an frt-flanked neo. Southern blot confirmed excision of the exons. RT-PCR revealed the splicing of exon 2 to exon 5, resulting in a frame shift after the codon for amino acid 22 and a stop codon at amino acid 31. Therefore, the protein products were less than 32 amino acids long, instead of the 641, and lacked the catalytic center. (J:91066)

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

In Structures Affected by this Mutation:

4 anatomical structure(s)

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:	57 strains or lines available

Original:	J:91066 Misgeld T, et al., Roles of neurotransmitter in synapse formation: development of neuromuscular junctions lacking choline acetyltransferase. Neuron. 2002 Nov 14;36(4):635-48
All:	4 reference(s)