|Institutional Source||Beutler Lab|
|Gene Name||surfactant associated protein D|
|Is this an essential gene?||Probably non essential (E-score: 0.202)|
|Stock #||R8463 (G1)|
|Chromosomal Location||41172214-41185149 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||A to G at 41175626 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000076383 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000077136]|
|Predicted Effect||probably null
|Coding Region Coverage||
|Validation Efficiency||98% (64/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the innate immune response, protecting the lungs against inhaled microorganisms and chemicals. The encoded protein may also be involved in surfactant metabolism. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit increased pool sizes of alveolar and tissue phosphatidylcholine, accumulation of surfactant lipids, altered phospholipid structure, emphysema, and pulmonary fibrosis and chronic inflammation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sftpd||
(F):5'- AGGAAGCCAGCTGTTGTCAC -3'
(R):5'- GGACAGTGAGGTGAAAATCCCC -3'
(F):5'- GTCACCTATTTCCCATGGTAAGATG -3'
(R):5'- TGAGGTGAAAATCCCCAGAAATAAAC -3'