Htr2c^tm1Jul
Targeted Allele Detail

Summary

• Symbol: Htr2c^tm1Jul
• Name: 5-hydroxytryptamine (serotonin) receptor 2C; targeted mutation 1, David Julius
• MGI ID: MGI:1857439
• Synonyms: 5-HT2cR-deficient
• Gene: Htr2c Location: ChrX:145745509-145980273 bp, + strand Genetic Position: ChrX, 68.46 cM, cytoband D-F4
• Alliance: Htr2c^tm1Jul page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:24339
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129S/Sv

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Insertion of a nonsense mutation into exon 5 of the gene resulted in the introduction of a stop codon within the fifth putative transmembrane segment of the receptor and in the elimination of the carboxy-terminal half of the protein. (J:24339)

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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ot1  Disease Model	Htr2c^tm1Jul/Y	B6.129S-Htr2c^tm1Jul
ot2	Htr2c^tm1Jul/Y	either: (involves: 129S2/SvPas * C57BL/6J * DBA/2) or (involves: 129S4/SvJae * C57BL/6J * DBA/2)

Phenotypes:

Affected Systems	ot1	ot2
show or hide all annotated terms Sex:
adipose tissue	√	√
increased white adipose tissue amount	√	√
increased epididymal fat pad weight	√	√
increased renal fat pad weight	√	√
behavior/neurological	√	√
behavior/neurological phenotype		N
increased susceptibility to pharmacologically induced seizures		√
impaired behavioral response to xenobiotic		√
abnormal response to new environment	√
abnormal spatial learning	√
polyphagia	√	√
increased grooming behavior		√
tonic seizures		√
tonic-clonic seizures		√
sporadic seizures		√
growth/size/body	√	√
increased body weight		√
increased susceptibility to age related obesity	√
increased susceptibility to diet-induced obesity	√
homeostasis/metabolism	√
increased susceptibility to diet-induced obesity	√
hyperglycemia	√
increased circulating insulin level	√
increased circulating leptin level	√
impaired glucose tolerance	√
insulin resistance	√
abnormal tumor necrosis factor level	√
abnormal response/metabolism to endogenous compounds	√
immune system	√
abnormal tumor necrosis factor level	√
mortality/aging		√
premature death		√
nervous system	√	√
nervous system phenotype		N
increased susceptibility to pharmacologically induced seizures		√
tonic seizures		√
tonic-clonic seizures		√
sporadic seizures		√
reduced long-term potentiation	√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	ot1
type 2 diabetes mellitus IDs type 2 diabetes mellitus       DOID:9352 ICD10CM:E11 KEGG:04930 MESH:D003924 NCI:C26747 OMIM:125853 OMIM:601283 OMIM:601407 OMIM:603694 OMIM:608036 UMLS_CUI:C0011860 Close	√

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Htr2c Mutation: 15 strains or lines available

Notes

ES cell line = D3 (129S2/SvPas) or J1 (129S4/SvJae).

References

• Original: J:24339 Tecott LH, et al., Eating disorder and epilepsy in mice lacking 5-HT2c serotonin receptors [see comments]. Nature. 1995 Apr 6;374(6522):542-6
• All: 39 reference(s)