|Institutional Source||Beutler Lab|
|Gene Name||glial cell line derived neurotrophic factor|
|Synonyms||glial cell line-derived neurotrophic factor|
|Is this an essential gene?||Probably essential (E-score: 0.930)|
|Stock #||R2915 (G1)|
|Chromosomal Location||7810846-7837575 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 7815649 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 41 (V41E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022744 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022744]|
|Predicted Effect||possibly damaging
AA Change: V41E
PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: V41E
|Meta Mutation Damage Score||0.5492|
|Coding Region Coverage||
|Validation Efficiency||98% (50/51)|
FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The recombinant form of this protein, a highly conserved neurotrophic factor, was shown to promote the survival and differentiation of dopaminergic neurons in culture, and was able to prevent apoptosis of motor neurons induced by axotomy. This protein is a ligand for the product of the RET (rearranged during transfection) protooncogene. Homozygous knockout mice for this gene exhibit defects in kidney development and neonatal death. This gene encodes multiple protein isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous inactivation of this gene leads to lack of ureteric bud induction, bilateral renal agenesis, absence of enteric neurons, and neonatal death. Heterozygotes show renal phenotypes ranging from two small kidneys, often with abnormal shapes and cortical cysts, to unilateral renal agenesis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gdnf||
(F):5'- GCACCGATCAAAAGCAGTG -3'
(R):5'- TTAGTGGAGAGGCGCACAAC -3'
(F):5'- TCAAAAGCAGTGCGGGC -3'
(R):5'- GAGAGGCGCACAACCTTCC -3'