|Institutional Source||Beutler Lab|
|Gene Name||FAT atypical cadherin 1|
|Synonyms||mFat1, Fath, 2310038E12Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8279 (G1)|
|Chromosomal Location||44935447-45052257 bp(+) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||T to A at 45030347 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000140765 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000098796] [ENSMUST00000189017] [ENSMUST00000191428]|
|AlphaFold||no structure available at present|
|Coding Region Coverage||
|Validation Efficiency||100% (33/33)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has five epidermal growth factor (EGF)-like repeats and one laminin A-G domain. This gene is expressed at high levels in a number of fetal epithelia. Its product probably functions as an adhesion molecule and/or signaling receptor, and is likely to be important in developmental processes and cell communication. Transcript variants derived from alternative splicing and/or alternative promoter usage exist, but they have not been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit holoprosencephaly, anophthalmia, kidney defects and perinatal lethality. Mice homozygous for a hypomorphic allele exhibit altered shoulder girdle and facial musculature, retinal defects, abnormal inner earpatterning and kidney defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fat1||
(F):5'- ACTAGCCCTCCTTGATCGTG -3'
(R):5'- ACTGCAGCAGGAAGTTTACTG -3'
(F):5'- TAATCTTCTAGTCAAGGCCACGG -3'
(R):5'- CAGGAAGTTTACTGCATGTAACTGTC -3'