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. Author manuscript; available in PMC: 2020 Nov 1.
Published in final edited form as: Dev Biol. 2019 Jul 10;455(1):1–9. doi: 10.1016/j.ydbio.2019.07.006

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