|Institutional Source||Beutler Lab|
|Gene Name||patched 1|
|Synonyms||A230106A15Rik, Patched 1, Ptc1, Ptc|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5945 (G1)|
|Chromosomal Location||63508328-63573598 bp(-) (GRCm38)|
|Type of Mutation||utr 5 prime|
|DNA Base Change (assembly)||A to T at 63573419 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000141766 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000194663] [ENSMUST00000195106]|
AA Change: V12E
AA Change: V12E
|Meta Mutation Damage Score||0.1105|
|Coding Region Coverage||
|Validation Efficiency||100% (101/101)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis, as well as the desert hedgehog and indian hedgehog proteins. This gene functions as a tumor suppressor. Mutations of this gene have been associated with basal cell nevus syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null embryos die by day 10 with neural tube defects. Heterozygotes are large with excess cerebellar granule cell proliferation and sometimes, hindlimb defects and medulloblastomas. Hypomorphic and spontaneous mutants have reproductive defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptch1||
(F):5'- TATTAATTTCCCGGGGCCCC -3'
(R):5'- AAAGGAAGGCAGCTACTCTG -3'
(F):5'- GTGCTGCGTGGCTCTCTC -3'
(R):5'- AGGGCAGCCTGTTTACCCAG -3'