|Institutional Source||Beutler Lab|
|Is this an essential gene?||Probably essential (E-score: 0.958)|
|Stock #||R3706 (G1)|
|Chromosomal Location||21884454-22344702 bp(-) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to C at 21995589 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000124052 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000062372] [ENSMUST00000161356]|
|AlphaFold||no structure available at present|
|Coding Region Coverage||
|Validation Efficiency||100% (41/41)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Reln||
(F):5'- CTTGGAATGGCAATGGTGATTC -3'
(R):5'- TGGTCCAGCTCTCTATTGAAACC -3'
(F):5'- GTCCCCAGTATAATAGACAGTAGGC -3'
(R):5'- CTTCCAGAATTTACAGAGGTCCTGC -3'