|Institutional Source||Beutler Lab|
|Gene Name||growth differentiation factor 9|
|Is this an essential gene?||Probably non essential (E-score: 0.231)|
|Stock #||R6894 (G1)|
|Chromosomal Location||53431023-53437904 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 53436819 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 201 (K201E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000018382 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000018382]|
|Predicted Effect||possibly damaging
AA Change: K201E
PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: K201E
|Coding Region Coverage||
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. This protein regulates ovarian function. Female mice that are homozygous null for this gene are sterile with impaired folliculogenesis. [provided by RefSeq, Jul 2016]
PHENOTYPE: Females homozygous for a targeted null mutation are sterile with a block in folliculogenesis. Mutant oocytes exhibit perinuclear organelle aggregation, unusual Golgi complexes, absence of cortical granules, and impaired granulosa cell connections. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gdf9||
(F):5'- TTTAACCTGGACCGGGTGAC -3'
(R):5'- ATGCTGTAAAGGCCTCCAGG -3'
(F):5'- GGGTGACTGCCATGGAAC -3'
(R):5'- TGTAAAGGCCTCCAGGTGGAC -3'