|Institutional Source||Beutler Lab|
|Synonyms||LPH, LOC226413, Lphl|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1135 (G1)|
|Chromosomal Location||128284756-128328318 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||A to G at 128294124 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000073190 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000073490]|
|Predicted Effect||probably null
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the glycosyl hydrolase 1 family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme is integral to the plasma membrane and has both phlorizin hydrolase activity and lactase activity. Mutations in this gene are associated with congenital lactase deficiency. Polymorphisms in this gene are associated with lactase persistence, in which intestinal lactase activity persists at childhood levels into adulthood. [provided by RefSeq, Jan 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lct||
(F):5'- CGGATGGAATGGAGGATTTGACCC -3'
(R):5'- CGCTCTGACTTGCTCATAGGTGAC -3'
(F):5'- GAAGACCCGGATTCCAGTTTC -3'
(R):5'- CTCATAGGTGACCATGTATCACTGG -3'