Phenotypes Associated with This Genotype

Genotype
MGI:3605874

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

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

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