Table 1.
Amh and Amhr2 mutations in the mouse and dog.
| Mouse Amh | ||||
|---|---|---|---|---|
| Allele | Variant | Dominant/recessive | Phenotype | References |
| Exon 1, intron 1, exon 2 deletion with neo cassette (tm1Bhr) | induced | recessive | male PMDS, infertility, Leydig cell hyperplasia; female primordial follicle recruitment alterations | Behringer 1994; Durlinger 1999 |
| SF1-binding site mutation in promoter region with neo cassette in intron 1 (tm2Bhr) | induced | recessive | male PMDS | Arango 1999 |
| SF1-binding site mutation in promoter region (tm2. 1Bhr) | induced | recessive | wild-type, decreased Amh transcript levels | Arango 1999 |
| SOX9-binding site mutation in promoter region with neo cassette in intron 1 (tm3Bhr) | induced | recessive | male PMDS | Arango 1999 |
| SOX9-binding site mutation in promoter region (itm3. 1Bhr) | induced | recessive | male PMDS | Arango 1999 |
| SF1- & SOX9-binding site mutation in promoter region with neo cassette in intron 1 (tm4. 1Bhr) | induced | recessive | male PMDS | Arango 1999 |
| SF1- & SOX9-binding site mutation in promoter region (tm4.1Bhr) | induced | recessive | male PMDS | Arango 1999 |
| neo cassette in intron 1 (.tm5Bhr) | induced | recessive | male PMDS | Arango 1999 |
| loxP in intron 1 (tm5.1Bhr) | induced | N/A | wild-type | Arango 1999 |
| Mouse Arnhr2 | ||||
| Allele | Variant | Dominant/recessive | Phenotype | References |
| Exons 1-6 deletion with neo cassette (tm1Bhr) | induced | recessive | male PMDS | Mishina 1996 |
| Insertion of IRES-cre cassette with neo cassette into exon 5 with 50-bp deletion (tm3(cre)Bhr) | induced | recessive | male PMDS | Jamin 2002 |
| Insertion of IRES-lacZ cassette with neo cassette into exon 5 with 50-bp deletion (tm2Bhr) | induced | recessive | male PMDS | Arango 2008 |
| Dog AMHR2 | ||||
| Allele | Variant | Dominant/recessive | Phenotype | Reference |
| Exon 3, C241T | spontaneous | recessive | male PMDS; some males with undescended testes and infertility | Wu 2009 |