B6;129-Ptchd1^tm1Gfng/J

Stock number: 028986
Product name: Ptchd1-YFP
Research areas: Neurobiology Research, Research Tools

Description

These Ptchd1-YFP knock in/knock out mice express YFP from the endogenous Ptchd1 locus. These mice may be useful in studies of GABAergic neurons of the thalamic reticular nucleus.

Detailed description

The X linked Ptchd1 gene encodes a transmembrane protein receptor that is believed to be involved in the sonic hedgehog pathway, and is expressed in GABAergic neurons of the thalamic reticular nucleus. Mutations in this gene have been associated with attention-deficit hyperactivity disorder and intellectual disability. Immunohistochemically YFP positive cells are also positive for inhibitory neuronal marker GAD67 in the thalamic reticular nucleus and the Purkinje layer of the cerebellum, but not in the cortex or striatum. In the thalamic reticular nucleus YFP immunopositive cells are also immunopositive for somatostatin. YFP expression has been analyzed in brain tissue only. Female mice that are homozygous, and male mice that are hemizygous, for the targeted mutation are viable and fertile.

Development

A targeting vector containing ATG-eYFP-STOP (bovine growth hormone poly-A tail) cassette and a FRT site flanked-NEO cassette was used to disrupt and replace exon 1 of the X linked Ptchd1 gene. The construct was electroporated into unspecified embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6J blastocysts. The resulting chimeric male animals were crossed to female C57BL/6J mice, and then backcrossed to C57BL/6J for 2 generations. Upon arrival, sperm was cryopreserved. To establish our live colony, an aliquot of frozen sperm was used to fertilize C57BL/6J oocytes (Stock No. 000664).

Allele

Symbol: Ptchd1^tm1Gfng
Name: targeted mutation 1, Guoping Feng
MGI accession ID: MGI:5792575
Generation method: Targeted
Attributes: Reporter
Marker symbol: Ptchd1
Marker name: patched domain containing 1
Chromosome: X
Strain of origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺
Expressed genes: YFP,Yellow Fluorescent Protein,jellyfish
Site of expression: YFP positive cells are expressed in the thalamic reticular nucleus and the Purkinje layer of the cerebellum.
Molecular note: A targeting vector containing ATG-eYFP-STOP (bovine growth hormone poly-A tail) cassette and a FRT site flanked-NEO cassette was used to disrupt and replace exon 1 of the X linked Ptchd1 gene.