|Institutional Source||Beutler Lab|
|Gene Name||growth differentiation factor 7|
|Is this an essential gene?||Probably essential (E-score: 0.850)|
|Stock #||R8705 (G1)|
|Chromosomal Location||8297918-8301954 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 8298167 bp (GRCm38)|
|Amino Acid Change||Glutamic Acid to Lysine at position 377 (E377K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000151234 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037313] [ENSMUST00000220073]|
AA Change: E385K
PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
AA Change: E385K
AA Change: E377K
PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|Coding Region Coverage||
|Validation Efficiency||97% (36/37)|
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 may play a role in the differentiation of tendon cells and spinal cord interneurons. Mice lacking a functional copy of this gene exhibit absence of some spinal dopaminergic neurons and brain defects, male sterility, and premature death. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a null allele lack D1A neurons in the dorsal spinal cord; some develop severe hydrocephaly with dilated ventricles and late-onset brain defects. Mice homozygous for another null allele show premature death, hydrocephaly, aberrant seminal vesicle development and male sterility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gdf7||
(F):5'- CGGCATCGATGTAGAGAATGC -3'
(R):5'- AAGAGAGTCTGTTCCGGGAG -3'
(F):5'- ATGCTGATGGGACTGAGCC -3'
(R):5'- TGGGTCACGCAAAGCCAAC -3'