Phenotypes associated with this allele

• Allele Symbol: Sfn^Er
• Allele Name: repeated epilation
• Allele ID: MGI:1861121
• Summary: 11 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sfn^Er/Sfn^Er	B6CBACa A^w-J/A-Sfn^Er/J	MGI:3765943
hm2	Sfn^Er/Sfn^Er	involves: 129/Sv * C57BL/6	MGI:3605874
hm3	Sfn^Er/Sfn^Er	involves: C57BL/6By	MGI:3844985
hm4	Sfn^Er/Sfn^Er	Not Specified	MGI:3845120
ht5	Sfn^Er/Sfn^+	B6CBACa A^w-J/A-Sfn^Er/J	MGI:3765944
ht6	Sfn^Er/Sfn^+	involves: 129/Sv * C57BL/6	MGI:3605876
ht7	Sfn^Er/Sfn^+	Not Specified	MGI:5559504
cx8	Irf6^tm1Mjd/Irf6^+ Sfn^Er/Sfn^Er	involves: 129S1/Sv * 129X1/SvJ	MGI:5426899
cx9	Chuk^tm1Mka/Chuk^+ Sfn^Er/Sfn^Er	involves: 129S1/Sv * 129X1/SvJ	MGI:5426900
cx10	Irf6^tm1Mjd/Irf6^+ Sfn^Er/Sfn^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3693811
cx11	Kdf1^shd/Kdf1^+ Sfn^Er/Sfn^+	involves: C3HeB/FeJ * C57BL/6J	MGI:5559505

Genotype
MGI:3765943

hm1

• Allelic Composition: Sfn^Er/Sfn^Er
• Genetic Background: B6CBACa A^w-J/A-Sfn^Er/J

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

Dorsal skin comparison of a wild type and Sfn^Er/Sfn^Er mouse

mortality/aging

perinatal lethality, complete penetrance ( J:102931 )

• die at birth due to respiratory stress

digestive/alimentary system

abnormal oral epithelium morphology ( J:102931 )

• fusion of the epithelium of the oral cavity

growth/size/body

abnormal oral epithelium morphology ( J:102931 )

• fusion of the epithelium of the oral cavity

respiratory system

respiratory distress ( J:102931 )

craniofacial

abnormal oral epithelium morphology ( J:102931 )

• fusion of the epithelium of the oral cavity

limbs/digits/tail

short limbs ( J:102931 )

• stumpy legs

short tail ( J:102931 )

• stumpy tail

integument

abnormal keratinocyte differentiation ( J:102931 )

• failure of keratinocyte terminal differentiation; epidermis cells do not differentiate into mature granular and cornified cells

absent epidermis stratum corneum ( J:102931 )

• the thickened epidermis lacks the stratum corneum

absent epidermis stratum granulosum ( J:102931 )

• the thickened epidermis lacks the stratum granulosum

epidermal hyperplasia ( J:102931 )

thick epidermis ( J:102931 )

shiny skin ( J:102931 )

cellular

abnormal keratinocyte differentiation ( J:102931 )

• failure of keratinocyte terminal differentiation; epidermis cells do not differentiate into mature granular and cornified cells

Genotype
MGI:3605874

hm2

• Allelic Composition: Sfn^Er/Sfn^Er
• Genetic Background: involves: 129/Sv * C57BL/6

Abnormal skin morphology of Sfn^Er/Sfn⁺ and Sfn^Er/Sfn^Er mice

mortality/aging

neonatal lethality, complete penetrance ( J:6200 )

• born alive

• die shortly after birth of acute respiratory distress due to a closed oral cavity

respiratory system

small external nares ( J:6200 , J:7243 )

• nostrils present only as two very small holes (J:6200)

• nares are smaller than normal by embryonic day 13 (J:7243)

abnormal nasal cavity morphology ( J:7243 )

• the nasal cavities remain separated from the oral cavity and the palatal swellings are joined directly to the sidewalls of the nasal septum

abnormal pharynx morphology ( J:7243 )

• at embryonic day 14 the nasal palatal zone is reduced in size, there is a palato-mandibular joining, and the areas bordering the oral cavity are compressed and deformed

abnormal nasopharynx morphology ( J:7243 )

• by embryonic day 14 the naso-pharyngeal duct is greatly modified

respiratory distress ( J:6200 )

• acute respiratory distress is cause of death

respiratory failure ( J:6200 )

• pups try to breath but cannot due to closed oral cavity

digestive/alimentary system

palatal shelf fusion with tongue or mandible ( J:7243 )

• development of the palatal shelves is impinged and they are connected to the tongue and mandible at embryonic days 14 and 15 such that they do not reorient

cleft secondary palate ( J:6200 )

• palatal shelves fail to fuse along midline

median cleft palate ( J:6200 )

abnormal tongue morphology ( J:6200 , J:7243 )

• tongue fused to both premaxilla and mandible (J:6200)

• inadequate space in the oral cavity for the tongue to develop abnormally such that at embryonic day 15 the apical extremity of the tongue is very far back, it is closely joined to the nasal septum for a long way, the dorsal surface is ondulated, its musculature is compressed in an antero-posterior direction and the tongue is compressed by the maxillae, palatal shelves and nasal septum (J:7243)

• at embryonic day 18 large lacunae are found in the lateral parts and cystic formation appear at the place of genio-glossal and genio-hyoid muscles (J:7243)

anal atresia ( J:6200 )

• anal orifice undetectable

herniated intestine ( J:6200 )

• 1-2 external loops of the bowel occasionally seen (Celosomia)

abnormal perineum morphology ( J:6200 )

• urogenital orifices undetectable

liver/biliary system

abnormal liver morphology ( J:6200 )

• sometimes partially protrudes from the body cavity

craniofacial

abnormal jaw morphology ( J:6200 , J:7243 )

• complete fusion of premaxillary and lower jaw epithelia (J:6200)

• at embryonic day 13 the mandible is positioned further forward than normal with the center and lateral zones being closer to the maxilla so that there is less space between them (J:7243)

abnormal mandible morphology ( J:7243 )

• by embryonic day 14 the mandible is malformed and fused with the maxilla leaving the oral cavity completely filled in

palatal shelf fusion with tongue or mandible ( J:7243 )

• development of the palatal shelves is impinged and they are connected to the tongue and mandible at embryonic days 14 and 15 such that they do not reorient

flat face ( J:7243 )

• beginning at embryonic day 13 the face, from the top of the cranium to the tip of the snout becomes flattened leaving a shortened snout and decreased prominance of the features, with vibrissae more difficult to discern

fused lips ( J:7243 )

• lip fusion begins laterally on embryonic day 13 and closure of the lips is nearly complete by embryonic day 15

thin lip ( J:6200 )

abnormal oral cavity morphology ( J:6200 )

• oral cavity closed

cleft secondary palate ( J:6200 )

• palatal shelves fail to fuse along midline

median cleft palate ( J:6200 )

abnormal tongue morphology ( J:6200 , J:7243 )

• tongue fused to both premaxilla and mandible (J:6200)

• inadequate space in the oral cavity for the tongue to develop abnormally such that at embryonic day 15 the apical extremity of the tongue is very far back, it is closely joined to the nasal septum for a long way, the dorsal surface is ondulated, its musculature is compressed in an antero-posterior direction and the tongue is compressed by the maxillae, palatal shelves and nasal septum (J:7243)

• at embryonic day 18 large lacunae are found in the lateral parts and cystic formation appear at the place of genio-glossal and genio-hyoid muscles (J:7243)

oral atresia ( J:6200 )

small external nares ( J:6200 , J:7243 )

• nostrils present only as two very small holes (J:6200)

• nares are smaller than normal by embryonic day 13 (J:7243)

abnormal nasal cavity morphology ( J:7243 )

• the nasal cavities remain separated from the oral cavity and the palatal swellings are joined directly to the sidewalls of the nasal septum

flattened snout ( J:7243 )

short snout ( J:6200 )

• truncated

abnormal external auditory canal morphology ( J:7243 )

• the auditory ducts appear sealed at embryonic day 15

small ears ( J:6200 , J:7243 )

• pinna reduced in size (J:6200)

• smaller than normal by embryonic day 13 (J:7243)

limbs/digits/tail

abnormal phalanx morphology ( J:6200 )

• phalanges sometimes fused (symphalangy)

• complete disappearance of distal phalangies sometimes

brachyphalangia ( J:6200 )

abnormal radius morphology ( J:6200 )

• radius held closer to humerus

short limbs ( J:6200 )

• limbs and tail greatly shortened

decreased caudal vertebrae number ( J:6200 )

• 10-12 caudal vertebrae missing

skeleton

abnormal phalanx morphology ( J:6200 )

• phalanges sometimes fused (symphalangy)

• complete disappearance of distal phalangies sometimes

brachyphalangia ( J:6200 )

abnormal radius morphology ( J:6200 )

• radius held closer to humerus

abnormal axial skeleton morphology ( J:6200 )

abnormal jaw morphology ( J:6200 , J:7243 )

• complete fusion of premaxillary and lower jaw epithelia (J:6200)

• at embryonic day 13 the mandible is positioned further forward than normal with the center and lateral zones being closer to the maxilla so that there is less space between them (J:7243)

abnormal mandible morphology ( J:7243 )

• by embryonic day 14 the mandible is malformed and fused with the maxilla leaving the oral cavity completely filled in

decreased caudal vertebrae number ( J:6200 )

• 10-12 caudal vertebrae missing

abnormal spine curvature ( J:7243 )

• by embryonic day 15 there is no curvature of the neck

kyphosis ( J:6200 )

• accentuated dorsal curvature and head shifted slightly forward along body axis

reproductive system

abnormal perineum morphology ( J:6200 )

• urogenital orifices undetectable

hearing/vestibular/ear

abnormal external auditory canal morphology ( J:7243 )

• the auditory ducts appear sealed at embryonic day 15

small ears ( J:6200 , J:7243 )

• pinna reduced in size (J:6200)

• smaller than normal by embryonic day 13 (J:7243)

vision/eye

microphthalmia ( J:6200 , J:7243 )

• at embryonic day 13 the eyes are less prominant than normal and at embryonic day 15 the eyes are smaller and much less prominent than normal (J:7243)

integument

decreased hair follicle number ( J:6200 )

• hair follicles very rare

abnormal epidermal layer morphology ( J:6708 )

abnormal epidermis stratum basale morphology ( J:6200 , J:6708 )

• stratum germinativum underdeveloped (J:6200)

• fewer desmosomes between basal layer cells (J:6708)

abnormal epidermis stratum corneum morphology ( J:6708 )

• cells less organized

• true cornified zone not seen

abnormal epidermis stratum granulosum morphology ( J:6708 )

• cells less organized

• increased number of granular cell layers

shiny skin ( J:6200 )

thin skin ( J:6200 , J:6708 )

• extremely thin and smooth (J:6200)

• inconsistent thickness (J:6708)

growth/size/body

abnormal head morphology ( J:7243 )

palatal shelf fusion with tongue or mandible ( J:7243 )

• development of the palatal shelves is impinged and they are connected to the tongue and mandible at embryonic days 14 and 15 such that they do not reorient

flat face ( J:7243 )

• beginning at embryonic day 13 the face, from the top of the cranium to the tip of the snout becomes flattened leaving a shortened snout and decreased prominance of the features, with vibrissae more difficult to discern

fused lips ( J:7243 )

• lip fusion begins laterally on embryonic day 13 and closure of the lips is nearly complete by embryonic day 15

thin lip ( J:6200 )

abnormal oral cavity morphology ( J:6200 )

• oral cavity closed

cleft secondary palate ( J:6200 )

• palatal shelves fail to fuse along midline

median cleft palate ( J:6200 )

abnormal tongue morphology ( J:6200 , J:7243 )

• tongue fused to both premaxilla and mandible (J:6200)

• inadequate space in the oral cavity for the tongue to develop abnormally such that at embryonic day 15 the apical extremity of the tongue is very far back, it is closely joined to the nasal septum for a long way, the dorsal surface is ondulated, its musculature is compressed in an antero-posterior direction and the tongue is compressed by the maxillae, palatal shelves and nasal septum (J:7243)

• at embryonic day 18 large lacunae are found in the lateral parts and cystic formation appear at the place of genio-glossal and genio-hyoid muscles (J:7243)

oral atresia ( J:6200 )

small external nares ( J:6200 , J:7243 )

• nostrils present only as two very small holes (J:6200)

• nares are smaller than normal by embryonic day 13 (J:7243)

abnormal nasal cavity morphology ( J:7243 )

• the nasal cavities remain separated from the oral cavity and the palatal swellings are joined directly to the sidewalls of the nasal septum

flattened snout ( J:7243 )

short snout ( J:6200 )

• truncated

abnormal external auditory canal morphology ( J:7243 )

• the auditory ducts appear sealed at embryonic day 15

small ears ( J:6200 , J:7243 )

• pinna reduced in size (J:6200)

• smaller than normal by embryonic day 13 (J:7243)

microcephaly ( J:7243 )

• from embryonic day 13 on there is a clear reduction in the cephalic volume

Genotype
MGI:3844985

hm3

• Allelic Composition: Sfn^Er/Sfn^Er
• Genetic Background: involves: C57BL/6By

limbs/digits/tail

syndactyly ( J:148459 )

abnormal limb development ( J:148459 )

• the forelimbs are found to fuse with the flank skin and the himdlimbs are found to fuse with the tail epidermis

abnormal limb bud morphology ( J:148459 )

• the limb bud is smaller than normal, does not flatten or form digits, and remains stumpy throughout development; the difference is detectable as early as embryonic day 13

abnormal apical ectodermal ridge morphology ( J:148459 )

• the apical ectodermal ridge is hyperplastic and penetrates the underlying mesenchyme at embryonic day 13 when the epidermal layer is irregularly thickened

small limb buds ( J:148459 )

abnormal embryonic autopod plate morphology ( J:148459 )

• at embryonic day 13 the precartilaginous condensations of the distal footplate appear closer to each other than normal, on embryonic day 14 the footplate is severely deformed, being rounded with converging precartilaginous elements instead of flattened with radiating digit precartilages, and individualization of the digits does not occur

abnormal tail morphology ( J:148459 )

• at embryonic day 13 the tail tip is bent toward the dorsal side, at embryonic day 14 there is a twisting or kinking of the distal part of the tail, and the tail is stumpy and joined to the hindlimbs from embryonic day 15 on

short tail ( J:148459 )

• in all homozygotes

kinked tail ( J:148459 )

craniofacial

abnormal craniofacial development ( J:148459 )

fused lips ( J:148459 )

• at embryonic day 15 the lips are fused

vision/eye

microphthalmia ( J:148459 )

• evident at embryonic day 15

abnormal eyelid morphology ( J:148460 )

• at embryonic day 15 the lower eyelid covers much more of the cornea than it does in wild-type controls, only a small central area remains where the two eyelids have not grown together, the leading edge is irregular, abnormal, flattened ectodermal cells cover the entire surface of the cornea, and no corneal epithelium is visible

• by embryonic day 19 the eyelids are grown together and the surface covering the eye is smooth, thin, shiny and translucent

• in newborns a continuous sheet of epithelial cells, which are abnormally flat, densely packed, lacking distinct cell boundaries, and disorganized in their arrangement, extends from the anterior corneal stroma to the surface of the eyelid and compresses the eyelid stroma into a thin wedge

abnormal eyelid fusion ( J:148460 )

abnormal eyelid aperture ( J:148460 )

embryo

abnormal limb bud morphology ( J:148459 )

• the limb bud is smaller than normal, does not flatten or form digits, and remains stumpy throughout development; the difference is detectable as early as embryonic day 13

abnormal apical ectodermal ridge morphology ( J:148459 )

• the apical ectodermal ridge is hyperplastic and penetrates the underlying mesenchyme at embryonic day 13 when the epidermal layer is irregularly thickened

small limb buds ( J:148459 )

integument

distorted hair follicle pattern ( J:148459 )

• scarce hair follicles at the surface of the skin at embryonic day 18, but hair follicles are found irregularly distributed and localized deeper into the dermis than normal

abnormal epidermal layer morphology ( J:148459 )

• at embryonic day 14 the flank epidermis is composed of several layers of flat cells and is approximately twice as thick as normal, while the dorsal and head skin remains thin

• at embryonic day 15 thickened epidermis extends to include the dorsal region and the hair nodules are delayed in appearance

• at embryonic day 16 the spinous layers are irregularly thickened and there are several layers of flattened cells above them

• while normal epidermis becomes wrinkled from embryonic day 17 onward, the epidermis of the homozygote remains smooth

• normal stratification of the epidermal layers is disturbed and on embyronic day 18 the basal layer has numerous lobes penetrating into the dermis, the hair follicles are irregularly spread between these lobes, the stratum spinosum is thickened with the superficial horny layers of the skin lacking or reduced, and the stratum granulosum is delayed in formation and varies in thickness

abnormal epidermis stratum basale morphology ( J:148459 )

abnormal epidermis stratum spinosum morphology ( J:148459 )

thick epidermis ( J:148459 )

thin epidermis ( J:148459 )

growth/size/body

fused lips ( J:148459 )

• at embryonic day 15 the lips are fused

Genotype
MGI:3845120

hm4

• Allelic Composition: Sfn^Er/Sfn^Er
• Genetic Background: Not Specified

craniofacial

craniofacial phenotype ( J:184926 )

N • mice exhibit normal molar tooth germ

Genotype
MGI:3765944

ht5

• Allelic Composition: Sfn^Er/Sfn⁺
• Genetic Background: B6CBACa A^w-J/A-Sfn^Er/J

Repeated hair loss in Sfn^Er/Sfn⁺ mice

integument

premature hair loss ( J:102931 )

• repeated hair loss in adults

Genotype
MGI:3605876

ht6

• Allelic Composition: Sfn^Er/Sfn⁺
• Genetic Background: involves: 129/Sv * C57BL/6

mortality/aging

lethality at weaning, incomplete penetrance ( J:6200 )

• increased mortality starting at about the time hair loss starts and continuing through weaning and a little after

• mice surviving the post weaning period are fertile and live normal lifespans

growth/size/body

postnatal growth retardation ( J:6200 )

• starting about the same time as hair loss

neoplasm

increased skin papilloma incidence ( J:12025 )

• 67% frequency in mice older than 6 months

• begin as small sessile or pedunculated papillomas, then most enlarge, and many develop horns

• no evidence of virus particles

increased squamous cell carcinoma incidence ( J:12025 )

• 67% frequency in mice older than 6 months

• squamous cell carcinomas in the fleshy base of large cutaneous horns

• no evidence of virus particles

integument

premature hair loss ( J:6200 , J:29020 )

• first coat lost by 3 weeks then quickly replaced and lost again (J:6200)

• hair loss begins around eyes and nose (J:6200)

• normal until around 13 days when hair loss begins (J:29020)

sparse hair ( J:29020 )

increased skin papilloma incidence ( J:12025 )

• 67% frequency in mice older than 6 months

• begin as small sessile or pedunculated papillomas, then most enlarge, and many develop horns

• no evidence of virus particles

Genotype
MGI:5559504

ht7

• Allelic Composition: Sfn^Er/Sfn⁺
• Genetic Background: Not Specified

integument

impaired skin barrier function ( J:203995 )

• eyelids, ears, snout and digit/tail tips

homeostasis/metabolism

impaired skin barrier function ( J:203995 )

• eyelids, ears, snout and digit/tail tips

Genotype
MGI:5426899

cx8

• Allelic Composition: Irf6^tm1Mjd/Irf6⁺; Sfn^Er/Sfn^Er
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

craniofacial

craniofacial phenotype ( J:184926 )

N • mice exhibit normal teeth and molar tooth germ

Genotype
MGI:5426900

cx9

• Allelic Composition: Chuk^tm1Mka/Chuk⁺; Sfn^Er/Sfn^Er
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

craniofacial

craniofacial phenotype ( J:184926 )

N • mice exhibit normal teeth and molar tooth germ

Genotype
MGI:3693811

cx10

• Allelic Composition: Irf6^tm1Mjd/Irf6⁺; Sfn^Er/Sfn⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

craniofacial

abnormal mouth morphology ( J:116077 )

• severe intraoral adhesions prevent opening of mouth at E17

cleft palate ( J:116077 )

• seen at E17

limbs/digits/tail

syndactyly ( J:116077 )

• affected pups show forepaw and hindpaw syndactyly

kinked tail ( J:116077 )

• at E17

digestive/alimentary system

cleft palate ( J:116077 )

• seen at E17

abnormal esophagus development ( J:116077 )

• fused esophagus is found at E17

integument

abnormal skin morphology ( J:116077 )

• at E17, affected pups have smooth skin

abnormal epidermal layer morphology ( J:116077 )

• epidermis is hyperproliferative

absent epidermis stratum corneum ( J:116077 )

absent epidermis stratum granulosum ( J:116077 )

thick epidermis stratum spinosum ( J:116077 )

abnormal epidermis suprabasal layer morphology ( J:116077 )

• areas of keratinization are frequently detected within and sometimes on surface of expanded suprabasal layers

thick epidermis ( J:116077 )

• mutants have thickened epithelium resulting from expanded stratum spinosum; clearly defined stratum granulosum and stratum corneum do not form toward epidermal surface

growth/size/body

abnormal mouth morphology ( J:116077 )

• severe intraoral adhesions prevent opening of mouth at E17

cleft palate ( J:116077 )

• seen at E17

abnormal body wall morphology ( J:116077 )

• at E17, partial fusion of hindlimbs and tail to body wall is observed

Genotype
MGI:5559505

cx11

• Allelic Composition: Kdf1^shd/Kdf1⁺; Sfn^Er/Sfn⁺
• Genetic Background: involves: C3HeB/FeJ * C57BL/6J

mortality/aging

preweaning lethality, incomplete penetrance ( J:203995 )

• despite Mendelian numbers during embryonic development, only 1 mouse was obtained postnatally

integument

impaired skin barrier function ( J:203995 )

• in several areas, pronounced in the eyelids, ears, snout, digit/tail tips, chin and two dorsal stripes

abnormal epidermis stratum corneum morphology ( J:203995 )

• breaks in the cornified layer in dorsal stripes

• however, most regions exhibit normal cornified layers

thick epidermis ( J:203995 )

craniofacial

cleft palate ( J:203995 )

• in the one recovered mouse

oral atresia ( J:203995 )

• in the one recovered mouse

homeostasis/metabolism

impaired skin barrier function ( J:203995 )

• in several areas, pronounced in the eyelids, ears, snout, digit/tail tips, chin and two dorsal stripes

digestive/alimentary system

cleft palate ( J:203995 )

• in the one recovered mouse

growth/size/body

cleft palate ( J:203995 )

• in the one recovered mouse

oral atresia ( J:203995 )

• in the one recovered mouse