Mouse Genome Informatics
cx1
    Amhtm1Bhr/Amhtm1Bhr
ArTfm/Y

either: (involves 129P3/J * 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
reproductive system
• absence of vas deferens
• XY male mice developed undescended dysfunctional testes, uteri, coiled oviducts, and a vagina with an opening

endocrine/exocrine glands


Mouse Genome Informatics
cx2
    ArTfm/Y
Insl3tm1Imad/Insl3tm1Imad

involves: 129/Sv * CD-1 * STOCK EdaTa
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
reproductive system
• Mullerian duct derivatives were absent (J:83429)
• there is no tight attachment of the testes to the inguinal region (J:83429)
• bilateral cryptorchism with testes situated adjacent to the kidneys (J:83429)
• lack of tight attachment to the inguinal region (J:83429)
• testes were attached to the dorsal abdominal wall by well developed cranial suspsensory ligaments (J:83429)
• the epididymis was absent (J:83429)
• the vas deferens was absent (J:83429)
• the male external and internal genitalia are not virilized (J:83429)

endocrine/exocrine glands
• bilateral cryptorchism with testes situated adjacent to the kidneys (J:83429)
• lack of tight attachment to the inguinal region (J:83429)
• testes were attached to the dorsal abdominal wall by well developed cranial suspsensory ligaments (J:83429)

skeleton
• there is no tight attachment of the testes to the inguinal region (J:83429)

Mouse Models of Human Disease
OMIM IDRef(s)
Cryptorchidism, Unilateral or Bilateral 219050 J:83429


Mouse Genome Informatics
cx3
    ArTfm/Ar+
Lactb2Tg(Igh-Meis1)2770Amb/Lactb2Tg(Igh-Meis1)2770Amb

involves: FVB/NJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
N
• mice survive at least 200 days unlike Lactb2Tg(Igh-Meis1)2770Amb homozygotes (J:79618)


Mouse Genome Informatics
cx4
    ArTfm/Y
Tg(TSPY)9Jshm/0

involves: NMRI * STOCK EdaTa Atp7aMo-blo
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
reproductive system
• mice exhibit greater thickening and hyperplasia of peritubular myoid cells compared to ArTfm male mice on the original stock background
• unlike ArTfm male mice on the original stock background
• in 8 of 31 mice unlike ArTfm male mice on the original stock background
• compared to ArTfm male mice on a mixed NMRI and stock of origin background
• spermatogenesis does not proceed beyond meiosis prophase
• male mice have female genitals, a blind ending vagina, inguinal testes, no scrotum and lack derivatives of the Wolffian ducts

tumorigenesis
• 3 of 31 mice exhibit unilateral Leydig tumor unlike ArTfm male mice on the original stock background
• however, no germ cell tumors are observed

endocrine/exocrine glands
• mice exhibit greater thickening and hyperplasia of peritubular myoid cells compared to ArTfm male mice on the original stock background
• unlike ArTfm male mice on the original stock background
• in 8 of 31 mice unlike ArTfm male mice on the original stock background
• compared to ArTfm male mice on a mixed NMRI and stock of origin background

Mouse Models of Human Disease
OMIM IDRef(s)
Androgen Insensitivity Syndrome; AIS 300068 J:140803


Mouse Genome Informatics
ot5
    ArTfm/Y
involves: NMRI * STOCK EdaTa Atp7aMo-blo
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
reproductive system
• Background Sensitivity: mice exhibit greater thickening and hyperplasia of peritubular myoid cells compared to ArTfm male mice on the original stock background
• Background Sensitivity: unlike ArTfm male mice on the original stock background
• Background Sensitivity: in 15 of 46 mice unlike ArTfm male mice on the original stock background
• spermatogenesis does not proceed beyond meiosis prophase
• male mice have female genitals, a blind ending vagina, inguinal testes, no scrotum and lack derivatives of the Wolffian ducts

tumorigenesis
• Background Sensitivity: 4 of 46 mice exhibit unilateral Leydig tumor unlike ArTfm male mice on the original stock background
• however, no germ cell tumors are observed

endocrine/exocrine glands
• Background Sensitivity: mice exhibit greater thickening and hyperplasia of peritubular myoid cells compared to ArTfm male mice on the original stock background
• Background Sensitivity: unlike ArTfm male mice on the original stock background
• Background Sensitivity: in 15 of 46 mice unlike ArTfm male mice on the original stock background

Mouse Models of Human Disease
OMIM IDRef(s)
Androgen Insensitivity Syndrome; AIS 300068 J:140803


Mouse Genome Informatics
ot6
    ArTfm/Y
involves: STOCK EdaTa Atp7aMo-blo
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
reproductive system
• Background Sensitivity: mice exhibit thickening and hyperplasia of peritubular myoid cells that is not as great as when the allele is present on a mixed NMRI and stock of origin background
• spermatogenesis does not proceed beyond meiosis prophase
• male mice have female genitals, a blind ending vagina, inguinal testes, no scrotum and lack derivatives of the Wolffian ducts

endocrine/exocrine glands
• Background Sensitivity: mice exhibit thickening and hyperplasia of peritubular myoid cells that is not as great as when the allele is present on a mixed NMRI and stock of origin background

hematopoietic system
• the percentage of TER119+ cells in the bone marrow is decreased
• however, the number of circulating TER119+ cells is not significantly different from controls
• increase in the percentage and absolute number of B cell precursors
• however, the number of LPS responsive B cells is not increased
• the number of MAC-1+ cells in the bone marrow is decreased
• however, the number of circulating MAC-1+ cells is not significantly different from controls
• the number of MAC-1+ cells in the bone marrow is decreased
• the percentage of TER119+ cells in the bone marrow is decreased

immune system
• increase in the percentage and absolute number of B cell precursors
• however, the number of LPS responsive B cells is not increased
• the number of MAC-1+ cells in the bone marrow is decreased
• however, the number of circulating MAC-1+ cells is not significantly different from controls

Mouse Models of Human Disease
OMIM IDRef(s)
Androgen Insensitivity Syndrome; AIS 300068 J:140803


Mouse Genome Informatics
ot7
    ArTfm/Y
Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
reproductive system
• an extra layer of parietal lymphatic cells was present, but these cells appeared to be normal; myoid cells were also normal (J:65900)
• peritubular fibrosis was observed, as indicated by a few extra layers of fibroblastic-like cells around the seminiferous tubules, although this fibrosis was not as severe as that seen in Dhhtm1Amc feminized males (J:65900)
• collagen and basal lamina material between Sertoli and myoid cells extended around the entire seminiferous tubule unlike that of the patchy basal lamina seen in Dhhtm1Amc feminized males (J:65900)
• at 63 days of age, testes from adult male hemizygotes contained abundant adult-type Leydig cells which appeared relatively undifferentiated and lacked smooth endoplasmic reticulum (J:65900)
• germ cell development progressed to spermatocytes (J:65900)

endocrine/exocrine glands
• an extra layer of parietal lymphatic cells was present, but these cells appeared to be normal; myoid cells were also normal (J:65900)
• peritubular fibrosis was observed, as indicated by a few extra layers of fibroblastic-like cells around the seminiferous tubules, although this fibrosis was not as severe as that seen in Dhhtm1Amc feminized males (J:65900)
• collagen and basal lamina material between Sertoli and myoid cells extended around the entire seminiferous tubule unlike that of the patchy basal lamina seen in Dhhtm1Amc feminized males (J:65900)
• at 63 days of age, testes from adult male hemizygotes contained abundant adult-type Leydig cells which appeared relatively undifferentiated and lacked smooth endoplasmic reticulum (J:65900)


Mouse Genome Informatics
ot8
    ArTfm/Y
STOCK EdaTa Atp7aMo-blo/+ +
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
reproductive system
• indistinguishable from females
• XY mice had vaginas that remained closed in most mice, though some did open at 3 months of age
• most spermatocytes were arrested at meiotic prophase, though some were observed in metaphase
• testes were positioned amongst fat in the abdomen
• the epididymides were absent from XY mice
• the vas deferens were absent from XY mice
• XY mice possessed testes and female secondary structures including vagina and teats
• XY mice did not possess ovaries

behavior/neurological
• XY mice behaved like non-oestrus females, reduced aggression

digestive/alimentary system
• indistinguishable from females

endocrine/exocrine glands
• testes were positioned amongst fat in the abdomen

Mouse Models of Human Disease
OMIM IDRef(s)
Androgen Insensitivity Syndrome; AIS 300068 J:5173