Table 3.
Summary of AGTPBP1 reported mutant alleles. ENU: N-ethyl-N-nitrosourea.
| Allele Name Mutation | Mutation | Clinical Features | Genetic Mutation in AGTPBP1 |
|---|---|---|---|
| Agtpbp1pcd−1J | Spontaneous | Reduced body size; Ataxia; cerebellar atrophy; postnatal degeneration of thalamic neurons, PCs, MCs and retinal photoreceptors; male infertility; female partial fertility. | Unknown (possibly in regulatory region) |
| Agtpbp1pcd−2J | Spontaneous | Hylomorphic allele with reduced | Insertion (~7.8Kb) between exons 14–15 |
| Agtpbp1pcd−3J | Spontaneous | Reduced body size; Ataxia; Cerebellar atrophy; postnatal degeneration of thalamic neurons, PCs, MCs and photoreceptors; male infertility; female partial fertility; Reduced number of antral follicles. | Deletion (~12.2 Kb) between intron 5 and exon 8 |
| Agtpbp1pcd−4J | ENU-induced mutagenesis | Ataxia; degeneration of PCs | Unknown |
| Agtpbp1pcd−5J | Spontaneous | Ataxia; Degeneration of PCs and MCs | Insertion of an aspartic acid residue (D775) in exon 18 |
| Agtpbp1pcd−6J | ENU-induced mutagenesis | Ataxia; cerebellar and testicular atrophy; postnatal degeneration of PCs, MCs and photoreceptors; decreased skeletal muscle fiber size; male infertility. | Unknown |
| Agtpbp1pcd−7J | Spontaneous | Ataxia; postnatal degeneration of PCs; enlarged hippocampus; abnormal hearing | Unknown |
| Agtpbp1pcd−8J | Spontaneous | Affectation of behavior; low size body; Alteration of nervous system development, reproductive, and vision. | Unknown |
| Agtpbp1pcd−9J | Spontaneous | Ataxia, but has a slightly later onset than that caused by the original pcd allele. | Unknown |
| Agtpbp1pcd-Tg(Dhfr)1jwg | Transgene insertion | Ataxia; degeneration of PCs, MCs and photoreceptor cells; some male infertility, female partial fertility; degeneration of sperm | Random gene disruption |
| Agtpbp1Drunk | Mutagenesis | Degeneration of Purkinje cells and photoreceptor cells; Male infertility | Unknown |
| Agtpbp1Rio | Mutagenesis | Tremor and abnormal sperm | Unknown |
| Agtpbp1babe | ENU-induced mutagenesis | Ataxia; paraparesis | P804 arginine to a termination codon |
| Agtpbp1pcd-Btlr | ENU-induced mutagenesis | Ataxia; degeneration of PCs, MCs and photoreceptor cells; male infertility, oligozoospermia and teratozoospermia | a T-to-A transversion in the donor splice site of intron 11 |
| Agtpbp1pcd-m2Btlr | ENU-induced mutagenesis | Tremors; decreased body size; reduced activated sperm motility | an A to G transition; destroys the acceptor splice site of intron 7 of the gene |
| Agtpbp1pcd-Sid | Spontaneous | Reduced body size; Ataxia; Cerebellar atrophy. | Deletion of exon 7 |
| Agtpbp1Gt(IST13517F11)Tigm | Gene trapped allele | one ES cell; unclassified | Chr13:59477801-59478055 bp (-);Chr13:59477801-59477979 bp (-) |
| Agtpbp1Gt(OST186151)Lex | Gene trapped allele | Lex-1 (ES Cell) | Chr13:59531904-59544452 bp (-) |
| Agtpbp1Gt(OST188387)Lex | Gene trapped allele | Lex-1 (ES Cell) | Chr13:59531902-59533237 bp (-) |
| Agtpbp1Gt(OST252171)Lex | Gene trapped allele | Lex-1 (ES Cell) | Chr13:59531904-59544452 bp (-) |
| Agtpbp1Gt(OST300426)Lex | Gene trapped allele | Lex-1 (ES Cell) | Chr13:59531904-59544452 bp (-) |
| Agtpbp1Gt(OST300428)Lex | Gene trapped allele | Lex-1 (ES Cell) | Chr13:59536248-59536374 bp (-) |
| Agtpbp1Gt(OST301743)Lex | Gene trapped allele | Lex-1 (ES Cell) | Chr13:59531913-59536374 bp (-) |
| pcd KO | Knock-out | Ataxia; cerebellar atrophy, postnatal degeneration of PCs and photoreceptors. | Deletion of exons 21 and 22 |