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Allelic Variation

The report Allelic Variation contains all allelic variants (including some that are wild type) in Geniverse, associated with Gene Models and the circumstances under which these alleles will be seen.

This is a resource for developers that will not be seen by student users.

Gene
Model		 Allelic
Variant		 Notes
Tyr g880del This is the colorless allele, seen when Tyr is sequenced from c/c. The deletion of a base pair at nucleotide position 880 (g880del) causes a frameshift that results in a truncated protein.
Asip + This is the wild type allele of Metallic. Because Nightwing (m/m) was sequenced for the genome assembly, the mutant allele S113P is the reference sequence. This is based on a14R in mouse, which is S112P.
(Link out to MGI)
Mc1r + This is the wild type allele of Mc1r. There are currently no phenotypic variants of Mc1r in Geniverse. Students might sequence this gene in an attempt to understand Metallic.
Otc R131L This is the bog breath allele, based on the late-onset ornithine transcarbamylase deficiency allele R129L in humans.
(Link out to citation)
Cps1 t1809c This is a synonymous substition that changes tgt to tgc (both Cys). It is observed when students sequence Cps1 from drakes with bog breath or dancer.
Asl + This is the wild-type allele of Asl. It is observed when students sequence Asl from drakes with bog breath or dancer.
Ass1 + This is the wild-type allele of Ass1. It is observed when students sequence Ass1 from drakes with bog breath or dancer.
Arg + This is the wild-type allele of Arg. It is observed when students sequence Arg from drakes with bog breath or dancer.
Slc25a15 + This is the wild-type allele of Slc25a15. It is observed when students sequence Slc25a15 from drakes with bog breath.
Slc25a15 L71P The L71P allele substitutes a helix-breaking proline in one of the spans of transmembrane alpha helix in Slc25a15. This is the allele associated with dancer. The position is based on a human variant L71Q in HHH Syndrome.
(Link out to OMIM)
Otc + This is the wild-type allele of Otc. It is observed when students sequence Otc from drakes with dancer.
Tyrp1 C111Y This is the brown allele, seen when Tyrp1 is sequenced from b/b. The C111Y allele of drakes is modeled on the Tyrp1b allele of the mouse (C113Y).
(Link out to MGI)
Myo5a M508P + P509S This is the d allele of dilute, seen when Myo5a is sequenced from d/d. The M508P + P509S allele of drakes is modeled on the Myo5ad-Btlr allele of the mouse (M515I + P516S).
(Link out to MGI)
Myo5a a1669t This is the dl allele of dilute, seen when Myo5a is sequenced from dl/Y dead embryos. The mutation of a base pair at nucleotide position 1669 (a1669t) introduces a stop codon that results in a truncated protein.