Phenotypes associated with this allele

• Allele Symbol: Ar^Tfm
• Allele Name: testicular feminization
• Allele ID: MGI:1856319
• Summary: 10 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Amh^tm1Bhr/Amh^tm1Bhr Ar^Tfm/Y	either: (involves: 129P3/J * 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6)	MGI:2450394
cx2	Ar^TfmEda^Ta-25H/Y	involves: 101/H * C3H/HeH	MGI:4430366
cx3	Ar^Tfm/Ar^+ Eda^Ta-25H/Eda^+	involves: 101/H * C3H/HeH	MGI:4459540
cx4	Ar^Tfm/Y Insl3^tm1Imad/Insl3^tm1Imad	involves: 129/Sv * CD-1 * STOCK Eda^Ta	MGI:2662011
cx5	Ar^Tfm/Ar^+ Lactb2^Tg(Igh-Meis1)2770Amb/Lactb2^Tg(Igh-Meis1)2770Amb	involves: FVB/NJ	MGI:3795905
cx6	Ar^Tfm/Y Tg(TSPY)9Jshm/0	involves: NMRI * STOCK Eda^Ta Atp7a^Mo-blo	MGI:3815198
ot7	Ar^Tfm/Y	involves: NMRI * STOCK Eda^Ta Atp7a^Mo-blo	MGI:3815199
ot8	Ar^Tfm/Y	involves: STOCK Eda^Ta Atp7a^Mo-blo	MGI:2674328
ot9	Ar^Tfm/Y	Not Specified	MGI:2665799
ot10	Ar^Tfm/Y	STOCK Eda^Ta Atp7a^Mo-blo/+ +	MGI:2665793

Genotype
MGI:2450394

cx1

• Allelic Composition: Amh^tm1Bhr/Amh^tm1Bhr; Ar^Tfm/Y
• Genetic Background: either: (involves: 129P3/J * 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6)

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

reproductive system

arrest of spermatogenesis ( J:21396 )

♂

abnormal male reproductive system morphology ( J:21396 )

♂

cryptorchism ( J:21396 )

♂

absent epididymis ( J:21396 )

♂

absent vas deferens ( J:21396 )

♂ • absence of vas deferens

abnormal secondary sex determination ( J:21396 )

male pseudohermaphroditism ( J:21396 )

• XY male mice developed undescended dysfunctional testes, uteri, coiled oviducts, and a vagina with an opening

secondary sex reversal ( J:21396 )

endocrine/exocrine glands

cryptorchism ( J:21396 )

♂

Genotype
MGI:4430366

cx2

• Allelic Composition: Ar^TfmEda^Ta-25H/Y
• Genetic Background: involves: 101/H * C3H/HeH

mortality/aging

neonatal lethality, incomplete penetrance ( J:11266 )

♂

prenatal lethality, incomplete penetrance ( J:11266 )

♂

growth/size/body

decreased body size ( J:11266 )

♂ • often small with a runted appearance

pigmentation

abnormal coat/hair pigmentation ( J:11266 )

♂ • this class is underrepresented at weaning

irregular coat pigmentation ( J:11266 )

♂ • Background Sensitivity: black transverse markings are seen, variable in extent and location due to X-inactivation

transverse fur striping ( J:11266 )

♂

reproductive system

male pseudohermaphroditism ( J:11266 )

♂ • mutant mice are externally female but have abdominally located testes

nervous system

exencephaly ( J:11266 )

♂ • detected in some mice during fetal development

integument

abnormal coat/hair pigmentation ( J:11266 )

♂ • this class is underrepresented at weaning

irregular coat pigmentation ( J:11266 )

♂ • Background Sensitivity: black transverse markings are seen, variable in extent and location due to X-inactivation

transverse fur striping ( J:11266 )

♂

striated fur ( J:11266 )

♂ • Background Sensitivity: transverse black banding characterizes the appearance of this mouse on an agouti background

Genotype
MGI:4459540

cx3

• Allelic Composition: Ar^Tfm/Ar⁺; Eda^Ta-25H/Eda⁺
• Genetic Background: involves: 101/H * C3H/HeH

mortality/aging

neonatal lethality, incomplete penetrance ( J:11266 )

♀

prenatal lethality, incomplete penetrance ( J:11266 )

♀

pigmentation

abnormal coat/hair pigmentation ( J:11266 )

♀ • mice of this genotype appear to have black stripes

♀ • this class is underrepresented at weaning

irregular coat pigmentation ( J:11266 )

♀ • Background Sensitivity: black transverse markings are seen, variable in extent and location due to X-inactivation

transverse fur striping ( J:11266 )

♀

growth/size/body

supernumerary incisors ( J:11266 )

♀

decreased body size ( J:11266 )

♀ • frequently small and runted

craniofacial

abnormal cranium size ( J:11266 )

♀ • shortened with lateral distortion

supernumerary incisors ( J:11266 )

♀

domed cranium ( J:11266 )

♀

skeleton

abnormal cranium size ( J:11266 )

♀ • shortened with lateral distortion

supernumerary incisors ( J:11266 )

♀

domed cranium ( J:11266 )

♀

limbs/digits/tail

polydactyly ( J:11266 )

♀ • occasionally indications in the region of the hallux of the rear feet

syndactyly ( J:11266 )

♀ • involving predominantly digits 1 and 2 of both or either front or rear feet

nervous system

exencephaly ( J:11266 )

♀ • detected in some mice during fetal development

integument

abnormal coat/hair pigmentation ( J:11266 )

♀ • mice of this genotype appear to have black stripes

♀ • this class is underrepresented at weaning

irregular coat pigmentation ( J:11266 )

♀ • Background Sensitivity: black transverse markings are seen, variable in extent and location due to X-inactivation

transverse fur striping ( J:11266 )

♀

striated fur ( J:11266 )

♀ • Background Sensitivity: transverse black banding characterizes the appearance of this mouse on an agouti background

Genotype
MGI:2662011

cx4

• Allelic Composition: Ar^Tfm/Y; Insl3^tm1Imad/Insl3^tm1Imad
• Genetic Background: involves: 129/Sv * CD-1 * STOCK Eda^Ta

reproductive system

abnormal female reproductive system morphology ( J:83429 )

♀ • Mullerian duct derivatives were absent

abnormal gubernaculum morphology ( J:83429 )

♂ • there is no tight attachment of the testes to the inguinal region

abnormal male reproductive system morphology ( J:83429 )

♂

bilateral cryptorchism ( J:83429 )

♂ • bilateral cryptorchism with testes situated adjacent to the kidneys

♂ • lack of tight attachment to the inguinal region

♂ • testes were attached to the dorsal abdominal wall by well developed cranial suspsensory ligaments

absent epididymis ( J:83429 )

♂ • the epididymis was absent

absent vas deferens ( J:83429 )

♂ • the vas deferens was absent

abnormal secondary sex determination ( J:83429 )

♂

male pseudohermaphroditism ( J:83429 )

♂ • the male external and internal genitalia are not virilized

endocrine/exocrine glands

bilateral cryptorchism ( J:83429 )

♂ • bilateral cryptorchism with testes situated adjacent to the kidneys

♂ • lack of tight attachment to the inguinal region

♂ • testes were attached to the dorsal abdominal wall by well developed cranial suspsensory ligaments

skeleton

abnormal gubernaculum morphology ( J:83429 )

♂ • there is no tight attachment of the testes to the inguinal region

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cryptorchidism		DOID:11383	OMIM:219050	J:83429

Genotype
MGI:3795905

cx5

• Allelic Composition: Ar^Tfm/Ar⁺; Lactb2^{Tg(Igh-Meis1)2770Amb}/Lactb2^{Tg(Igh-Meis1)2770Amb}
• Genetic Background: involves: FVB/NJ

mortality/aging

mortality/aging ( J:79618 )

♀N • mice survive at least 200 days unlike Lactb2^{Tg(Igh-Meis1)2770Amb} homozygotes

Genotype
MGI:3815198

cx6

• Allelic Composition: Ar^Tfm/Y; Tg(TSPY)9Jshm/0
• Genetic Background: involves: NMRI * STOCK Eda^Ta Atp7a^Mo-blo

reproductive system

arrest of male meiosis ( J:140803 )

• spermatogenesis does not proceed beyond meiosis prophase

abnormal seminiferous tubule morphology ( J:140803 )

• mice exhibit greater thickening and hyperplasia of peritubular myoid cells compared to Ar^Tfm male mice on the original stock background

enlarged seminiferous tubules ( J:140803 )

• in 8 of 31 mice unlike Ar^Tfm male mice on the original stock background

increased Leydig cell number ( J:140803 )

• unlike Ar^Tfm male mice on the original stock background

increased testis weight ( J:140803 )

• compared to Ar^Tfm male mice on a mixed NMRI and stock of origin background

cryptorchism ( J:140803 )

increased testis tumor incidence ( J:140803 )

• 3 of 31 mice exhibit unilateral Leydig tumor unlike Ar^Tfm male mice on the original stock background

• however, no germ cell tumors are observed

secondary sex reversal ( J:140803 )

• male mice have female genitals, a blind ending vagina, inguinal testes, no scrotum and lack derivatives of the Wolffian ducts

neoplasm

increased testis tumor incidence ( J:140803 )

• 3 of 31 mice exhibit unilateral Leydig tumor unlike Ar^Tfm male mice on the original stock background

• however, no germ cell tumors are observed

endocrine/exocrine glands

abnormal seminiferous tubule morphology ( J:140803 )

• mice exhibit greater thickening and hyperplasia of peritubular myoid cells compared to Ar^Tfm male mice on the original stock background

enlarged seminiferous tubules ( J:140803 )

• in 8 of 31 mice unlike Ar^Tfm male mice on the original stock background

increased Leydig cell number ( J:140803 )

• unlike Ar^Tfm male mice on the original stock background

increased testis weight ( J:140803 )

• compared to Ar^Tfm male mice on a mixed NMRI and stock of origin background

cryptorchism ( J:140803 )

increased testis tumor incidence ( J:140803 )

• 3 of 31 mice exhibit unilateral Leydig tumor unlike Ar^Tfm male mice on the original stock background

• however, no germ cell tumors are observed

cellular

arrest of male meiosis ( J:140803 )

• spermatogenesis does not proceed beyond meiosis prophase

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
androgen insensitivity syndrome		DOID:4674	OMIM:300068	J:140803

Genotype
MGI:3815199

ot7

• Allelic Composition: Ar^Tfm/Y
• Genetic Background: involves: NMRI * STOCK Eda^Ta Atp7a^Mo-blo

reproductive system

arrest of male meiosis ( J:140803 )

• spermatogenesis does not proceed beyond meiosis prophase

abnormal seminiferous tubule morphology ( J:140803 )

• Background Sensitivity: mice exhibit greater thickening and hyperplasia of peritubular myoid cells compared to Ar^Tfm male mice on the original stock background

enlarged seminiferous tubules ( J:140803 )

• Background Sensitivity: in 15 of 46 mice unlike Ar^Tfm male mice on the original stock background

increased Leydig cell number ( J:140803 )

• Background Sensitivity: unlike Ar^Tfm male mice on the original stock background

cryptorchism ( J:140803 )

increased testis tumor incidence ( J:140803 )

• Background Sensitivity: 4 of 46 mice exhibit unilateral Leydig tumor unlike Ar^Tfm male mice on the original stock background

• however, no germ cell tumors are observed

secondary sex reversal ( J:140803 )

• male mice have female genitals, a blind ending vagina, inguinal testes, no scrotum and lack derivatives of the Wolffian ducts

neoplasm

increased testis tumor incidence ( J:140803 )

• Background Sensitivity: 4 of 46 mice exhibit unilateral Leydig tumor unlike Ar^Tfm male mice on the original stock background

• however, no germ cell tumors are observed

endocrine/exocrine glands

abnormal seminiferous tubule morphology ( J:140803 )

• Background Sensitivity: mice exhibit greater thickening and hyperplasia of peritubular myoid cells compared to Ar^Tfm male mice on the original stock background

enlarged seminiferous tubules ( J:140803 )

• Background Sensitivity: in 15 of 46 mice unlike Ar^Tfm male mice on the original stock background

increased Leydig cell number ( J:140803 )

• Background Sensitivity: unlike Ar^Tfm male mice on the original stock background

cryptorchism ( J:140803 )

increased testis tumor incidence ( J:140803 )

• Background Sensitivity: 4 of 46 mice exhibit unilateral Leydig tumor unlike Ar^Tfm male mice on the original stock background

• however, no germ cell tumors are observed

cellular

arrest of male meiosis ( J:140803 )

• spermatogenesis does not proceed beyond meiosis prophase

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
androgen insensitivity syndrome		DOID:4674	OMIM:300068	J:140803

Genotype
MGI:2674328

ot8

• Allelic Composition: Ar^Tfm/Y
• Genetic Background: involves: STOCK Eda^Ta Atp7a^Mo-blo

reproductive system

arrest of male meiosis ( J:140803 )

• spermatogenesis does not proceed beyond meiosis prophase

abnormal seminiferous tubule morphology ( J:140803 )

• 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

secondary sex reversal ( J:140803 )

• male mice have female genitals, a blind ending vagina, inguinal testes, no scrotum and lack derivatives of the Wolffian ducts

endocrine/exocrine glands

abnormal seminiferous tubule morphology ( J:140803 )

• 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

abnormal erythropoiesis ( J:110923 )

• the percentage of TER119+ cells in the bone marrow is decreased

• however, the number of circulating TER119+ cells is not significantly different from controls

increased immature B cell number ( J:110923 )

• increase in the percentage and absolute number of B cell precursors

• however, the number of LPS responsive B cells is not increased

abnormal bone marrow cell number ( J:110923 )

• the number of MAC-1+ cells in the bone marrow is decreased

• the percentage of TER119+ cells in the bone marrow is decreased

abnormal myeloid leukocyte morphology ( J:110923 )

• 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

immune system

increased immature B cell number ( J:110923 )

• increase in the percentage and absolute number of B cell precursors

• however, the number of LPS responsive B cells is not increased

abnormal myeloid leukocyte morphology ( J:110923 )

• 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

cellular

arrest of male meiosis ( J:140803 )

• spermatogenesis does not proceed beyond meiosis prophase

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
androgen insensitivity syndrome		DOID:4674	OMIM:300068	J:140803

Genotype
MGI:2665799

ot9

• Allelic Composition: Ar^Tfm/Y
• Genetic Background: Not Specified

integument

abnormal mammary gland sensory innervation pattern ( J:192549 )

♂ • mammary glands of male mice are innervated as in female mice

reproductive system

abnormal testis morphology ( J:65900 )

♂ • an extra layer of parietal lymphatic cells was present, but these cells appeared to be normal; myoid cells were also normal

♂ • 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 Dhh^tm1Amc feminized males

♂ • 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 Dhh^tm1Amc feminized males

abnormal adult Leydig cell differentiation ( 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

abnormal spermatogenesis ( J:65900 )

♂ • germ cell development progressed to spermatocytes

nervous system

abnormal mammary gland sensory innervation pattern ( J:192549 )

♂ • mammary glands of male mice are innervated as in female mice

endocrine/exocrine glands

abnormal mammary gland sensory innervation pattern ( J:192549 )

♂ • mammary glands of male mice are innervated as in female mice

abnormal testis morphology ( J:65900 )

♂ • an extra layer of parietal lymphatic cells was present, but these cells appeared to be normal; myoid cells were also normal

♂ • 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 Dhh^tm1Amc feminized males

♂ • 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 Dhh^tm1Amc feminized males

abnormal adult Leydig cell differentiation ( 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

Genotype
MGI:2665793

ot10

• Allelic Composition: Ar^Tfm/Y
• Genetic Background: STOCK Eda^Ta Atp7a^Mo-blo/+ +

reproductive system

abnormal anogenital distance ( J:5173 )

• indistinguishable from females

abnormal female reproductive system morphology ( J:5173 )

♀

vagina atresia ( J:5173 )

♀ • XY mice had vaginas that remained closed in most mice, though some did open at 3 months of age

abnormal gametogenesis ( J:5173 )

arrest of male meiosis ( J:5173 )

♂ • most spermatocytes were arrested at meiotic prophase, though some were observed in metaphase

abnormal male reproductive system morphology ( J:5173 )

♂

Leydig cell hypertrophy ( J:5173 )

♂ • hypertrophic

small testis ( J:5173 )

♂

cryptorchism ( J:5173 )

♂ • testes were positioned amongst fat in the abdomen

absent epididymis ( J:5173 )

♂ • the epididymides were absent from XY mice

absent vas deferens ( J:5173 )

♂ • the vas deferens were absent from XY mice

abnormal secondary sex determination ( J:5173 )

male pseudohermaphroditism ( J:5173 )

secondary sex reversal ( J:5173 )

• XY mice possessed testes and female secondary structures including vagina and teats

• XY mice did not possess ovaries

behavior/neurological

abnormal social/conspecific interaction behavior ( J:5173 )

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

digestive/alimentary system

abnormal anogenital distance ( J:5173 )

• indistinguishable from females

endocrine/exocrine glands

Leydig cell hypertrophy ( J:5173 )

♂ • hypertrophic

small testis ( J:5173 )

♂

cryptorchism ( J:5173 )

♂ • testes were positioned amongst fat in the abdomen

cellular

arrest of male meiosis ( J:5173 )

♂ • most spermatocytes were arrested at meiotic prophase, though some were observed in metaphase

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
androgen insensitivity syndrome		DOID:4674	OMIM:300068	J:5173