Overview

This strain has been discontinued, please refer to Stock No. 001809

Genetic overview

Genetic Background	Generation

A^w-J

Allele Type	Gene Symbol	Gene Name
Spontaneous	a	nonagouti

Ar^Tfm

Allele Type	Gene Symbol	Gene Name
Spontaneous	Ar	androgen receptor

Allele Type	Gene Symbol	Gene Name
Spontaneous	Eda	ectodysplasin-A

Research Applications

Endocrine Deficiency Research
Reproductive Biology Research
Mouse/Human Gene Homologs
Dermatology Research
Developmental Biology Research
Sensorineural Research

View All Research Applications

Details

Detailed Description

Testicular feminization (Ar^Tfm) is a dominant spontaneous mutation on the X chromosome. Hemizygous male mice are outwardly female in appearance except that the vagina does not open until 3 months of age if at all. Male reproductive development is abnormal leading to very small testes, and the absense of vas deferens, the epididymis, and male accessory glands. Spermatogonia and Sertoli cells are present in the testes, but spermatogenesis does not proceed past meiotic prophase. Leydig cells, which normally produce androgen in males, fail to develop normally. This strain is also segregating for the tabby mutation (Eda^Ta) that affects both the coat color and hair pattern growth. The tabby mutation is maintained in repulsion with the testicular feminization mutation and is used as a coat color marker to assist in identifying resulting genotypes obtained from matings.

Genetics

A^w-J

Allele Symbol: A^w-J

Allele Name	white bellied agouti Jackson
Allele Type	Spontaneous
Allele Synonym(s)	A^WJ
Gene Symbol and Name	a, nonagouti
Gene Synonym(s)
Strain of Origin	C57BL/6J
Chromosome	2

Ar^Tfm

Allele Symbol: Ar^Tfm

Allele Name	testicular feminization
Allele Type	Spontaneous
Allele Synonym(s)	Tfm
Gene Symbol and Name	Ar, androgen receptor
Gene Synonym(s)
Strain of Origin	(STOCK Eda^Ta x Atp7a^Mo-blo)F1
Chromosome	X
General Note	Ar^Tfm acts by causing insensitivity to androgens due to a defect in androgen-binding receptor present in cytosol and nucleus. Most responses to androgens are absent or defective in Ar^Tfm/Y males and are not inducible by administration of androgens (J:5221, J:5532). Androgen receptor is found in kidney, submandibular gland (J:5667) and brain (J:5927). Ar^Tfm/Y males have about 20-25 percent of normal testosterone-binding activity in brain (J:6096) and 10-20 percent in kidney.
Molecular Note	A frameshift mutation resulting from the deletion of a single cytosine residue generated a premature stop codon at residue 412. The nonsense mutation is expected to preclude the translation of both the DNA- and steroid-binding domains.

Eda^Ta

Allele Symbol: Eda^Ta

Allele Name	tabby
Allele Type	Spontaneous
Allele Synonym(s)	Ta; Ta^f; Ta^Fa; Ta3
Gene Symbol and Name	Eda, ectodysplasin-A
Gene Synonym(s)
Strain of Origin	stock including A, C57BL, CBA, and RIII
Chromosome	X
General Note	This mutation arose in a strain selected for large size. Hemizygous mutant males breed satisfactorily, but homozygous mutant females are often sterile. Hemizygous mutant females are fully fertile (J:249).Hemizygous males and homozygous females are identical in phenotype with homozygous crinkled (Edaradd^cr) and downless (Edar^dl) mice and with homozygous or heterozygous sleek (Dl^slk) mice. They are characterized by absence of guard hairs and zigzags in the coat, a bald patch behind the ear, bald tail with a few kinks near the tip, reduced aperture of the eyelids, a respiratory disorder, and a modified agouti pattern (J:249). The number of vibrissae is reduced (J:14912). The incisors may be reduced or absent, and the molars are usually smaller than normal with the third molar often absent (J:5018, J:5138). There are defects of many endocrine glands. The structures affected by the mutation all arise embryologically as downgrowths of solid epithelial cords, not by invagination with a lumen or by outgrowths from deep grooves (J:5246).Hemizygous mutant females are most easily recognized if they are agouti, in which case they show transverse stripes of light-colored normal and dark tabby hair. They have normal incisors but may have mutant or intermediate-type molars (J:5138). A small proportion of heterozygous females may show some slight defects of some of the exocrine glands (J:5193).In the development of the coat of homozygous and hemizygous mutant mice, hair follicle initiation begins at 17 days of gestation, 3 days later than normal, and ends 1 or 2 days after birth, several days earlier than normal. The hairs are of only one type and resemble abnormal awls (J:12100, J:5137). By use of dermal--epidermal recombination grafts of embryonic flank skin, it was shown that Eda^Ta acts in the epidermis in its effects on structure of the hairs (J:6041). The effect of the mutation in preventing growth of hair on the tail may be either dermal or epidermal. The mutation may act directly on hair cells or via a diffusible product (J:7450). The phenotype of Eda^Ta/+ females has been extensively studied because of its relevance to the X-inactivation theory of dosage compensation (J:5018, J:5238).Eda^Ta and the related mutations Edaradd^cr and Edar^dl disrupt normal development of certain epidermal derivatives, including sweat glands. Although the sensory innervation of footpad skin and the sympathetic innervation of blood vessels in the foot pad is normal in these mutants, the sympathetic fibers that normally innervate the sweat glands fail to develop (J:19910).A candidate gene for the human familial X-linked disorder hypohidrotic ectodermal dysplasia (EDA)(OMIM 305100) has been partially cloned. Eda, a candidate for which has also been cloned, is the homologous gene in the mouse, on the basis of phenotype - hypoplasia of sweat glands, teeth, and hair - and of homologous mapping. There is high sequence identity between the cloned portions of the two genes. Known Eda mutations have been identified in the candidate mouse gene. An extracellular collagenous domain of the mouse gene, not yet identified in the EDA gene, may represent the location of mutations in 85-90% of human families (J:42614). A mouse gene Eda (ectodysplasin-A) has been proposed as the site of the tabby mutations (J:44605).Exogenous epidermal growth factor can reverse phenotypic features of Eda^Ta mice, advancing the delayed opening of eyelids and eruption of incisors (J:42661) and inducing development of dermal ridges and functional sweat glands (J:42660). Expression of epidermal growth factor receptor is reduced in EDA and in Eda^Ta mice (J:33361).
Molecular Note	This allele is characterized by an ~ 2 kb deletion: Genomic DNA was hybridized with an exon 1 probe showing a deletion including the coding region and primers for DNA flanking exon 1 failed to amplify in a PCR assay.

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Ar^Tfm related

Endocrine Deficiency Research
- Gonad Defects
Reproductive Biology Research
- Developmental Defects Affecting Gonads
- Fertility Defects
Mouse/Human Gene Homologs
- testicular feminization

Genotype: Eda^Ta related

Dermatology Research
- Color and White Spotting Defects
- Skin and Hair Texture Defects
Developmental Biology Research
- Eye Defects
Sensorineural Research
- Eye Defects
Mouse/Human Gene Homologs
- hypohidrotic ectodermal dysplasia

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Eda^Ta/Eda^Ta
B6CBACa A/A-Eda/J-XO

craniofacial phenotype

abnormal palatal rugae morphology
- 32% of mice exhibit different number of rugae on the left and right side compared to 25% of wild-type mice
- mice exhibit abnormalities in the palatal rugae pattern including shortness of rugae, absence of rugae, S-shaped rugae, and rugae discordance
- mice exhibit fewer ruga VI and VII abnormalities than in heterozygotes
- mice exhibit more ruga V abnormalities than in heterozygotes
- only 13% of mice exhibit a normal palatal rugae pattern
- ruga IV is S-shaped more often than in heterozygotes and wild-type mice
- ruga V is less often absent compared to in heterozygotes
- rugae V and VI are most often affected

growth/size/body region phenotype

abnormal palatal rugae morphology
- 32% of mice exhibit different number of rugae on the left and right side compared to 25% of wild-type mice
- mice exhibit abnormalities in the palatal rugae pattern including shortness of rugae, absence of rugae, S-shaped rugae, and rugae discordance
- mice exhibit fewer ruga VI and VII abnormalities than in heterozygotes
- mice exhibit more ruga V abnormalities than in heterozygotes
- only 13% of mice exhibit a normal palatal rugae pattern
- ruga IV is S-shaped more often than in heterozygotes and wild-type mice
- ruga V is less often absent compared to in heterozygotes
- rugae V and VI are most often affected

digestive/alimentary phenotype

abnormal palatal rugae morphology
- 32% of mice exhibit different number of rugae on the left and right side compared to 25% of wild-type mice
- mice exhibit abnormalities in the palatal rugae pattern including shortness of rugae, absence of rugae, S-shaped rugae, and rugae discordance
- mice exhibit fewer ruga VI and VII abnormalities than in heterozygotes
- mice exhibit more ruga V abnormalities than in heterozygotes
- only 13% of mice exhibit a normal palatal rugae pattern
- ruga IV is S-shaped more often than in heterozygotes and wild-type mice
- ruga V is less often absent compared to in heterozygotes
- rugae V and VI are most often affected

Genotype: Ar^Tfm/Y
Not Specified

endocrine/exocrine gland phenotype

abnormal adult Leydig cell differentiation
- 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 testis morphology
- an extra layer of parietal lymphatic cells was present, but these cells appeared to be normal; myoid cells were also normal
- 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
- i?id=MGI:1934259"> Dhh^tm1Amc feminized males
- 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
- zed males

nervous system phenotype

abnormal sensory neuron innervation pattern
- mammary glands of male mice are innervated as in female mice

reproductive system phenotype

abnormal adult Leydig cell differentiation
- 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
- germ cell development progressed to spermatocytes

abnormal testis morphology
- an extra layer of parietal lymphatic cells was present, but these cells appeared to be normal; myoid cells were also normal
- 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
- i?id=MGI:1934259"> Dhh^tm1Amc feminized males
- 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
- zed males

Genotype: Eda^Ta/Y
involves: A * C57BL * CBA * RIII

craniofacial phenotype

abnormal enamel morphology
- increase in enamel cover of the incisors

abnormal incisor morphology

abnormal molar cusp morphology
- crown of molars shows a simplified cusp pattern

abnormal molar morphology
- larger
- molars are abnormal; abnormalities of the upper molars are less variable than those of the lower ones
- molars are variable in size, sometimes smaller or larger than in wild-type, depending on the size of the first molar; if the first molar is only slightly smaller, the rest of the molars are smaller, if it is much smaller, than the other molars tend to be larger

abnormal molar root morphology
- molars have 1-2 composite roots instead of the usual three roots

abnormal nasal cavity morphology
- unable to keep nasal cavities clear, impairing air flow causing "snuffling"

absent incisors
- often absent

decreased molar number
- third molar is often absent

short incisors

small molars
- molars are usually smaller than normal

endocrine/exocrine gland phenotype

absent eccrine glands
- lack palmar and volar sweat glands

absent Meibomian glands

anhidrosis
- exhibit anhidrosis

growth/size/body region phenotype

abnormal enamel morphology
- increase in enamel cover of the incisors

abnormal incisor morphology

abnormal molar cusp morphology
- crown of molars shows a simplified cusp pattern

abnormal molar morphology
- larger
- molars are abnormal; abnormalities of the upper molars are less variable than those of the lower ones
- molars are variable in size, sometimes smaller or larger than in wild-type, depending on the size of the first molar; if the first molar is only slightly smaller, the rest of the molars are smaller, if it is much smaller, than the other molars tend to be larger

abnormal molar root morphology
- molars have 1-2 composite roots instead of the usual three roots

abnormal nasal cavity morphology
- unable to keep nasal cavities clear, impairing air flow causing "snuffling"

absent incisors
- often absent

decreased molar number
- third molar is often absent

short incisors

small molars
- molars are usually smaller than normal

integument phenotype

abnormal coat appearance

abnormal coat/ hair morphology

abnormal guard hair morphology

abnormal hair follicle pheomelanosome pheomelanin content

abnormal hair growth

abnormal vibrissa number
- usually one rather than two supra-orbital vibrissa

absent eccrine glands
- lack palmar and volar sweat glands

absent guard hair

absent Meibomian glands

absent vibrissae
- post-orbital sinus follicle and vibrissa are absent

absent zigzag hairs

anhidrosis
- exhibit anhidrosis

focal hair loss
- hair does not develop behind the ears or on the tail

limbs/digits/tail phenotype

abnormal autopod morphology
- dermal ridges on the paws are absent in all adults; EGF injection postnatally can induce dermal ridge and sweat gland formation

abnormal tail tip morphology

absent eccrine glands
- lack palmar and volar sweat glands

kinked tail
- usually there are multiple sharp kinks at the tail tip

pigmentation phenotype

abnormal hair follicle pheomelanosome pheomelanin content

respiratory system phenotype

abnormal nasal cavity morphology
- unable to keep nasal cavities clear, impairing air flow causing "snuffling"

abnormal respiratory mucosa morphology
- male mice lack submucosal glands

abnormal respiratory system morphology

skeleton phenotype

abnormal enamel morphology
- increase in enamel cover of the incisors

abnormal incisor morphology

abnormal molar cusp morphology
- crown of molars shows a simplified cusp pattern

abnormal molar morphology
- larger
- molars are abnormal; abnormalities of the upper molars are less variable than those of the lower ones
- molars are variable in size, sometimes smaller or larger than in wild-type, depending on the size of the first molar; if the first molar is only slightly smaller, the rest of the molars are smaller, if it is much smaller, than the other molars tend to be larger

abnormal molar root morphology
- molars have 1-2 composite roots instead of the usual three roots

abnormal skeleton morphology

absent incisors
- often absent

decreased molar number
- third molar is often absent

short incisors

small molars
- molars are usually smaller than normal

vision/eye phenotype

abnormal eye morphology

abnormal eyelid morphology

absent Meibomian glands

narrow eye opening

Genotype: Eda^Ta/Eda⁺
involves: A * C57BL * CBA * RIII

integument phenotype

abnormal coat appearance
- mice are mosaic for transverse striping
- on an agouti background, loss of yellow pigment in hair results in black hair in areas of skin containing the mutation

abnormal coat/ hair morphology

abnormal hair follicle melanocyte morphology

transverse fur striping

pigmentation phenotype

abnormal hair follicle melanocyte morphology

transverse fur striping

Genotype: Eda^Ta/Eda^Ta
Not Specified

craniofacial phenotype

abnormal lateral nasal gland morphology
- branching of lateral nasal gland 3 is defective at a more rostral location
- only lateral nasal gland 3 and 8 develop in mutants, while no other ducts of the other lateral nasal glands are found either in the lateral nasal wall or middle conchal lip

abnormal nasal cavity morphology
- accumulation of hair in nasal cavities results in "snuffling"

abnormal nasal gland morphology
- Normal - however, the Steno's gland (lateral nasal gland 1) and maxillary sinus gland develop normally
- medial nasal glands are completely absent

abnormal nose morphology

growth/size/body region phenotype

abnormal lateral nasal gland morphology
- branching of lateral nasal gland 3 is defective at a more rostral location
- only lateral nasal gland 3 and 8 develop in mutants, while no other ducts of the other lateral nasal glands are found either in the lateral nasal wall or middle conchal lip

abnormal nasal cavity morphology
- accumulation of hair in nasal cavities results in "snuffling"

abnormal nasal gland morphology
- Normal - however, the Steno's gland (lateral nasal gland 1) and maxillary sinus gland develop normally
- medial nasal glands are completely absent

abnormal nose morphology

integument phenotype

abnormal coat/ hair morphology

abnormal coat/hair pigmentation

abnormal hair follicle development
- E14-17 embryos lack the complement of prominent hair follicles for this age

abnormal hair growth
- hair does not develop behind the ears and on the tail

abnormal hair texture
- due to the absence of guard-hairs and zig-zag hairs

abnormal skin pigmentation
- noteably delayed

abnormal tail ring morphology
- devoid or nearly devoid of tail rings

abnormal vibrissa number
- the post-orbital vibrissa is absent
- usually there is one rather than two supra-orbital vibrissae

absent guard hair

absent hair follicle pheomelanosome pheomelanin
- absence of agouti-banding on dorsal hair results in a dark stripe in that region

absent zigzag hairs

thin skin
- noted a few days after birth

limbs/digits/tail phenotype

hairless tail
- devoid or nearly devoid of hair

kinked tail
- usually a few sharp kinks are seen at the tip

pigmentation phenotype

abnormal coat/hair pigmentation

abnormal skin pigmentation
- noteably delayed

absent hair follicle pheomelanosome pheomelanin
- absence of agouti-banding on dorsal hair results in a dark stripe in that region

respiratory system phenotype

abnormal lateral nasal gland morphology
- branching of lateral nasal gland 3 is defective at a more rostral location
- only lateral nasal gland 3 and 8 develop in mutants, while no other ducts of the other lateral nasal glands are found either in the lateral nasal wall or middle conchal lip

abnormal nasal cavity morphology
- accumulation of hair in nasal cavities results in "snuffling"

abnormal nasal gland morphology
- Normal - however, the Steno's gland (lateral nasal gland 1) and maxillary sinus gland develop normally
- medial nasal glands are completely absent

abnormal nose morphology

vision/eye phenotype

narrow eye opening

endocrine/exocrine gland phenotype

abnormal lateral nasal gland morphology
- branching of lateral nasal gland 3 is defective at a more rostral location
- only lateral nasal gland 3 and 8 develop in mutants, while no other ducts of the other lateral nasal glands are found either in the lateral nasal wall or middle conchal lip

abnormal nasal gland morphology
- Normal - however, the Steno's gland (lateral nasal gland 1) and maxillary sinus gland develop normally
- medial nasal glands are completely absent

Genotype: Ar^Tfm/Y
involves: NMRI * STOCK Eda Atp7a

endocrine/exocrine gland phenotype

abnormal seminiferous tubule morphology
- Background Sensitivity - mice exhibit greater thickening and hyperplasia of peritubular myoid cells compared to Ar^Tfm male mice on the original stock background

cryptorchism

enlarged seminiferous tubules
- Background Sensitivity - in 15 of 46 mice unlike Ar^Tfm male mice on the original stock background

increased testis tumor incidence
- Background Sensitivity - 4 of 46 mice exhibit unilateral Leydig tumor unlike Ar^Tfm male mice on the original stock background
- Normal - however, no germ cell tumors are observed

Leydig cell hyperplasia
- Background Sensitivity - unlike Ar^Tfm male mice on the original stock background

neoplasm

increased testis tumor incidence
- Background Sensitivity - 4 of 46 mice exhibit unilateral Leydig tumor unlike Ar^Tfm male mice on the original stock background
- Normal - however, no germ cell tumors are observed

reproductive system phenotype

abnormal seminiferous tubule morphology
- Background Sensitivity - mice exhibit greater thickening and hyperplasia of peritubular myoid cells compared to Ar^Tfm male mice on the original stock background

arrest of male meiosis
- spermatogenesis does not proceed beyond meiosis prophase

cryptorchism

enlarged seminiferous tubules
- Background Sensitivity - in 15 of 46 mice unlike Ar^Tfm male mice on the original stock background

increased testis tumor incidence
- Background Sensitivity - 4 of 46 mice exhibit unilateral Leydig tumor unlike Ar^Tfm male mice on the original stock background
- Normal - however, no germ cell tumors are observed

Leydig cell hyperplasia
- Background Sensitivity - unlike Ar^Tfm male mice on the original stock background

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

Genotype: Eda^Ta/Eda⁺
B6CBACa A/A-Eda/J-XO

craniofacial phenotype

abnormal palatal rugae morphology
- mice exhibit abnormalities in the palatal rugae pattern including shortness of rugae, division of rugae, and S-shaped rugae and rugae discoradance
- mice exhibit fewer ruga V abnormalities than in homozygotes
- mice exhibit more ruga VI and VII abnormalities than in homozygotes
- ruga IV is S-shaped less often than in homozygotes
- ruga V is more often absent compared to in homozygotes
- rugae V and VI are most often affected

growth/size/body region phenotype

abnormal palatal rugae morphology
- mice exhibit abnormalities in the palatal rugae pattern including shortness of rugae, division of rugae, and S-shaped rugae and rugae discoradance
- mice exhibit fewer ruga V abnormalities than in homozygotes
- mice exhibit more ruga VI and VII abnormalities than in homozygotes
- ruga IV is S-shaped less often than in homozygotes
- ruga V is more often absent compared to in homozygotes
- rugae V and VI are most often affected

digestive/alimentary phenotype

abnormal palatal rugae morphology
- mice exhibit abnormalities in the palatal rugae pattern including shortness of rugae, division of rugae, and S-shaped rugae and rugae discoradance
- mice exhibit fewer ruga V abnormalities than in homozygotes
- mice exhibit more ruga VI and VII abnormalities than in homozygotes
- ruga IV is S-shaped less often than in homozygotes
- ruga V is more often absent compared to in homozygotes
- rugae V and VI are most often affected

Genotype: Eda^Ta/Y
B6CBACa A/A-Eda/J-XO

craniofacial phenotype

abnormal palatal rugae morphology
- mice exhibit abnormalities in the palatal rugae pattern including shortness of rugae, absence of rugae, S-shaped rugae, and rugae discordance
- only 13% of mice exhibit a normal palatal rugae pattern
- rugae V and VI are most often affected

digestive/alimentary phenotype

abnormal palatal rugae morphology
- mice exhibit abnormalities in the palatal rugae pattern including shortness of rugae, absence of rugae, S-shaped rugae, and rugae discordance
- only 13% of mice exhibit a normal palatal rugae pattern
- rugae V and VI are most often affected

growth/size/body region phenotype

abnormal palatal rugae morphology
- mice exhibit abnormalities in the palatal rugae pattern including shortness of rugae, absence of rugae, S-shaped rugae, and rugae discordance
- only 13% of mice exhibit a normal palatal rugae pattern
- rugae V and VI are most often affected

Genotype: Eda^Ta/Y
Not Specified

craniofacial phenotype

abnormal lateral nasal gland morphology
- branching of lateral nasal gland 3 is defective at a more rostral location
- only lateral nasal gland 3 and 8 develop in mutants, while no other ducts of the other lateral nasal glands are found either in the lateral nasal wall or middle conchal lip

abnormal nasal cavity morphology
- accumulation of hair in nasal cavities results in "snuffling"

abnormal nasal gland morphology
- Normal - however, the Steno's gland (lateral nasal gland 1) and maxillary sinus gland develop normally
- medial nasal glands are completely absent

abnormal nose morphology

growth/size/body region phenotype

abnormal lateral nasal gland morphology
- branching of lateral nasal gland 3 is defective at a more rostral location
- only lateral nasal gland 3 and 8 develop in mutants, while no other ducts of the other lateral nasal glands are found either in the lateral nasal wall or middle conchal lip

abnormal nasal cavity morphology
- accumulation of hair in nasal cavities results in "snuffling"

abnormal nasal gland morphology
- Normal - however, the Steno's gland (lateral nasal gland 1) and maxillary sinus gland develop normally
- medial nasal glands are completely absent

abnormal nose morphology

integument phenotype

abnormal coat/ hair morphology

abnormal coat/hair pigmentation

abnormal hair follicle development
- E14-17 embryos lack the complement of prominent hair follicles for this age

abnormal hair growth
- hair does not develop behind the ears and on the tail

abnormal hair texture
- due to the absence of guard-hairs and zig-zag hairs

abnormal skin pigmentation
- noteably delayed

abnormal tail ring morphology
- devoid or nearly devoid of tail rings

abnormal vibrissa number
- the post-orbital vibrissa is absent
- usually there is one rather than two supra-orbital vibrissae

absent guard hair

absent hair follicle pheomelanosome pheomelanin
- absence of agouti-banding on dorsal hair results in a dark stripe in that region

absent zigzag hairs

thin skin
- noted a few days after birth

limbs/digits/tail phenotype

hairless tail
- devoid or nearly devoid of hair

kinked tail
- usually a few sharp kinks are seen at the tip

pigmentation phenotype

abnormal coat/hair pigmentation

abnormal skin pigmentation
- noteably delayed

absent hair follicle pheomelanosome pheomelanin
- absence of agouti-banding on dorsal hair results in a dark stripe in that region

respiratory system phenotype

abnormal lateral nasal gland morphology
- branching of lateral nasal gland 3 is defective at a more rostral location
- only lateral nasal gland 3 and 8 develop in mutants, while no other ducts of the other lateral nasal glands are found either in the lateral nasal wall or middle conchal lip

abnormal nasal cavity morphology
- accumulation of hair in nasal cavities results in "snuffling"

abnormal nasal gland morphology
- Normal - however, the Steno's gland (lateral nasal gland 1) and maxillary sinus gland develop normally
- medial nasal glands are completely absent

abnormal nose morphology

vision/eye phenotype

narrow eye opening

endocrine/exocrine gland phenotype

abnormal lateral nasal gland morphology
- branching of lateral nasal gland 3 is defective at a more rostral location
- only lateral nasal gland 3 and 8 develop in mutants, while no other ducts of the other lateral nasal glands are found either in the lateral nasal wall or middle conchal lip

abnormal nasal gland morphology
- Normal - however, the Steno's gland (lateral nasal gland 1) and maxillary sinus gland develop normally
- medial nasal glands are completely absent

Genotype: Eda^Ta/Eda⁺
Not Specified

integument phenotype

abnormal coat/hair pigmentation

abnormal hair texture
- Background Sensitivity - a result of loss of zigzag type hairs

absent hair follicle pheomelanosome pheomelanin
- Background Sensitivity - restricted loss of agouti hair color contributes to the appearance of transverse markings on an agouti background

absent zigzag hairs
- transverse markings are most distinct where this hair type is absent

decreased zigzag hair amount
- scarce or absent

irregular coat pigmentation
- Background Sensitivity - transverse markings are the result of regional loss of phaeomelanin from agouti hairs and absence or significant loss of of zigzag hairs

striated fur
- Background Sensitivity - on non-agouti or albino background significant regional loss or absence of zigzag hairs alone results in transverse markings
- Background Sensitivity - transverse black banding characterizes the appearance of this mouse on an agouti background

transverse fur striping
- Background Sensitivity - this appearance is the result of regional loss of phaeomelanin from agouti hairs and absence of zigzag hairs

pigmentation phenotype

abnormal coat/hair pigmentation

absent hair follicle pheomelanosome pheomelanin
- Background Sensitivity - restricted loss of agouti hair color contributes to the appearance of transverse markings on an agouti background

irregular coat pigmentation
- Background Sensitivity - transverse markings are the result of regional loss of phaeomelanin from agouti hairs and absence or significant loss of of zigzag hairs

transverse fur striping
- Background Sensitivity - this appearance is the result of regional loss of phaeomelanin from agouti hairs and absence of zigzag hairs

Genotype: Eda^Ta/Y
B6.Cg-A Eda/JGbms

integument phenotype

abnormal hair follicle development
- lack of tylotrich follicles at E14.5, E16 and E17

thin epidermis
- at E17

The following phenotype relates to a compound genotype created using this strain

Genotype: Eda^Ta/Eda⁺
C57BL/6J-A-Eda +/+ Ar/J

craniofacial phenotype

abnormal palatal rugae morphology
- mice exhibit abnormalities in the palatal rugae pattern including shortness of rugae, division of rugae, and S-shaped rugae and rugae discoradance
- mice exhibit fewer ruga V abnormalities than in homozygotes
- mice exhibit more ruga VI and VII abnormalities than in homozygotes
- ruga IV is S-shaped less often than in homozygotes
- ruga V is more often absent compared to in homozygotes
- rugae V and VI are most often affected

growth/size/body region phenotype

abnormal palatal rugae morphology
- mice exhibit abnormalities in the palatal rugae pattern including shortness of rugae, division of rugae, and S-shaped rugae and rugae discoradance
- mice exhibit fewer ruga V abnormalities than in homozygotes
- mice exhibit more ruga VI and VII abnormalities than in homozygotes
- ruga IV is S-shaped less often than in homozygotes
- ruga V is more often absent compared to in homozygotes
- rugae V and VI are most often affected

digestive/alimentary phenotype

abnormal palatal rugae morphology
- mice exhibit abnormalities in the palatal rugae pattern including shortness of rugae, division of rugae, and S-shaped rugae and rugae discoradance
- mice exhibit fewer ruga V abnormalities than in homozygotes
- mice exhibit more ruga VI and VII abnormalities than in homozygotes
- ruga IV is S-shaped less often than in homozygotes
- ruga V is more often absent compared to in homozygotes
- rugae V and VI are most often affected

References

Additional References

Charest NJ; Zhou ZX; Lubahn DB; Olsen KL; Wilson EM; French FS. 1991. A frameshift mutation destabilizes androgen receptor messenger RNA in the Tfm mouse. Mol Endocrinol 5(4):573-81PubMed: 1681426 MGI: J:712
Gaspar ML; Bourgarel P; Meo T; Tosi M. 1991. [Structure of messenger RNA of androgen receptor in mice and molecular characterization in Tfm mutant] C R Seances Soc Biol Fil 185(6):510-9PubMed: 1822400 MGI: J:1264
Gaspar ML; Meo T; Bourgarel P; Guenet JL; Tosi M. 1991. A single base deletion in the Tfm androgen receptor gene creates a short-lived messenger RNA that directs internal translation initiation. Proc Natl Acad Sci U S A 88(19):8606-10PubMed: 1924321 MGI: J:30797
Lyon MF; Hawkes SG. 1970. X-linked gene for testicular feminization in the mouse. Nature 227(5264):1217-9PubMed: 5452809 MGI: J:5173
Murphy L; Jeffcoate IA; O'Shaughnessy PJ. 1994. Abnormal Leydig cell development at puberty in the androgen-resistant Tfm mouse. Endocrinology 135(4):1372-7PubMed: 7925099 MGI: J:20980

Additional - A^w-J related

Additional - Ar^Tfm related

Additional - Eda^Ta related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Sanger sequencing:Ar-SEQ
- Separated PCR:A A A
- Separated PCR:A A A Alternate2
- Genotyping resources and troubleshooting

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

JAX® Mice, Products & Services Conditions of Use

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Genetic overview

Research Applications

Detailed Description

Aw-J

Allele Symbol: Aw-J

ArTfm

Allele Symbol: ArTfm

EdaTa

Allele Symbol: EdaTa

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: ArTfm related

Genotype: EdaTa related

Mammalian Phenotype Terms by Genotype

Genotype: EdaTa/EdaTaB6CBACa A/A-Eda/J-XO

craniofacial phenotype

growth/size/body region phenotype

digestive/alimentary phenotype

Genotype: ArTfm/YNot Specified

endocrine/exocrine gland phenotype

nervous system phenotype

reproductive system phenotype

Genotype: EdaTa/Yinvolves: A * C57BL * CBA * RIII

craniofacial phenotype

endocrine/exocrine gland phenotype

growth/size/body region phenotype

integument phenotype

limbs/digits/tail phenotype

pigmentation phenotype

respiratory system phenotype

skeleton phenotype

vision/eye phenotype

Genotype: EdaTa/Eda+involves: A * C57BL * CBA * RIII

integument phenotype

pigmentation phenotype

Genotype: EdaTa/EdaTaNot Specified

craniofacial phenotype

growth/size/body region phenotype

integument phenotype

limbs/digits/tail phenotype

pigmentation phenotype

respiratory system phenotype

vision/eye phenotype

endocrine/exocrine gland phenotype

Genotype: ArTfm/Yinvolves: NMRI * STOCK Eda Atp7a

endocrine/exocrine gland phenotype

neoplasm

reproductive system phenotype

Genotype: EdaTa/Eda+B6CBACa A/A-Eda/J-XO

craniofacial phenotype

growth/size/body region phenotype

digestive/alimentary phenotype

Genotype: EdaTa/YB6CBACa A/A-Eda/J-XO

craniofacial phenotype

digestive/alimentary phenotype

growth/size/body region phenotype

Genotype: EdaTa/YNot Specified

craniofacial phenotype

growth/size/body region phenotype

integument phenotype

limbs/digits/tail phenotype

pigmentation phenotype

respiratory system phenotype

vision/eye phenotype

endocrine/exocrine gland phenotype

Genotype: EdaTa/Eda+Not Specified

integument phenotype

pigmentation phenotype

Genotype: EdaTa/YB6.Cg-A Eda/JGbms

integument phenotype

Genotype: EdaTa/Eda+C57BL/6J-A-Eda +/+ Ar/J

craniofacial phenotype

growth/size/body region phenotype

digestive/alimentary phenotype

References

Additional References

Additional - Aw-J related

Additional - ArTfm related

A^w-J

Allele Symbol: A^w-J

Ar^Tfm

Allele Symbol: Ar^Tfm

Eda^Ta

Allele Symbol: Eda^Ta

Genotype: Ar^Tfm related

Genotype: Eda^Ta related

Genotype: Eda^Ta/Eda^Ta
B6CBACa A/A-Eda/J-XO

Genotype: Ar^Tfm/Y
Not Specified

Genotype: Eda^Ta/Y
involves: A * C57BL * CBA * RIII

Genotype: Eda^Ta/Eda⁺
involves: A * C57BL * CBA * RIII

Genotype: Eda^Ta/Eda^Ta
Not Specified

Genotype: Ar^Tfm/Y
involves: NMRI * STOCK Eda Atp7a

Genotype: Eda^Ta/Eda⁺
B6CBACa A/A-Eda/J-XO

Genotype: Eda^Ta/Y
B6CBACa A/A-Eda/J-XO

Genotype: Eda^Ta/Y
Not Specified

Genotype: Eda^Ta/Eda⁺
Not Specified

Genotype: Eda^Ta/Y
B6.Cg-A Eda/JGbms

Genotype: Eda^Ta/Eda⁺
C57BL/6J-A-Eda +/+ Ar/J

Additional - A^w-J related

Additional - Ar^Tfm related

Additional - Eda^Ta related