|Institutional Source||Beutler Lab|
|Gene Name||a disintegrin and metallopeptidase domain 19 (meltrin beta)|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0591 (G1)|
|Chromosomal Location||46055992-46147343 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to C at 46121411 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000011400 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000011400]|
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
FUNCTION: This gene encodes a cell surface glycoprotein and member of the ADAM (a disintegrin and metalloproteinase) family of endopeptidases. The encoded protein may play a role in the ectodomain shedding of neuregulin proteins. Homozygous knockout mice for this gene exhibit heart development defects and perinatal lethality. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that undergoes proteolytic processing to generate a mature protein product. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mice exhibit cardiac developmental defects and die perinatally. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adam19||
(F):5'- GGTCCACCAAAGAACCCCTTGATG -3'
(R):5'- ACAAGACCAGAAAAGGGCTGCTTAC -3'
(F):5'- CAAAGAACCCCTTGATGGTTAG -3'
(R):5'- CTCTTCTGAGCAAGCAGCTT -3'