Summary | Mutation origin | Mutation description | Find Mice (IMSR) | References

Symbol:	Ptchd1tm1d(KOMP)IcsOrl
Name:	patched domain containing 1; targeted mutation 1d, Institut de Transgenose
MGI ID:	MGI:6111285
Synonyms:	Ptchd1 KO
Gene:	Ptchd1  Location: ChrX:154356451-154406810 bp, - strand  Genetic Position: ChrX, 72.38 cM
Alliance:	Ptchd1tm1d(KOMP)IcsOrl page
IMPC:	Ptchd1 gene page

Germline Transmission:	Earliest citation of germline transmission: J:251210
Parent Cell Line:	JM8.N4 (ES Cell)
Strain of Origin:	C57BL/6N
Project Collection:	KOMP-CSD

Allele Type:    Targeted (Null/knockout) Mutation:    Intragenic deletion   Mutation details: The modified vector was inserted at position 155587519 of Chromosome X upstream of the exon2. (Build GRCm38). The cassette is composed of an FRT site followed by lacZ sequence and a loxP site. This first loxP site is followed by neomycin resistance gene under the control of the human beta-actin promoter, SV40 polyA, a second FRT site and a second loxP site. A third loxP site is inserted downstream of exon 2 at position 155587393. Exon 2 is thus flanked by loxP sites. A null/knockout allele was created by flp and cre recombinase expression in mice carrying this allele to remove the lacZ sequence, neo selection cassette and the exon 2. (J:251210)

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 Ptchd1 Mutation:	9 strains or lines available

Original:	J:251210 Tora D, et al., Cellular Functions of the Autism Risk Factor PTCHD1 in Mice. J Neurosci. 2017 Dec 6;37(49):11993-12005
All:	1 reference(s)