Phenotypes Associated with This Genotype

Genotype
MGI:3850334

• Allelic Composition: Sox18^Ra-Op/Sox18⁺
• Genetic Background: involves: C57BL/6J * DBA/2J

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:260 , J:279 )

• many mice are dead or dying shortly after birth (J:260)

• many mice are dead or dying at birth (J:279)

postnatal lethality, incomplete penetrance ( J:260 , J:279 )

• fewer than expected mice are present at weaning (J:260)

• edematous mice die prior to weaning (J:279)

growth/size/body

decreased body size ( J:260 , J:279 )

• mice are smaller than normal from birth up to three months of age (J:260)

• at weaning mice are two-thirds the size of wild-type mice (J:260)

distended abdomen ( J:279 )

• mice that die prior to weaning exhibit swollen abdomens with perintoneal cavities filled with thin, white liquid unlike in wild-type mice

homeostasis/metabolism

cyanosis ( J:260 )

• in some mice at birth

edema ( J:260 , J:279 )

• at birth, some mice are edematous (J:260)

• mice that die around birth are edematous in the neck, shoulders, and abdominal and pleural cavities (J:260)

skin edema ( J:260 )

• mice that die around birth have edematous skin that is stretched, glossy, membranous in appearance, with red patches

integument

skin edema ( J:260 )

• mice that die around birth have edematous skin that is stretched, glossy, membranous in appearance, with red patches

absent auchene hairs ( J:260 )

abnormal awl hair morphology ( J:260 )

• mice have some awl hairs unlike in wild-type mice

abnormal hair growth ( J:260 , J:279 )

• asynchronous (J:260)

• asynchronous (J:279)

delayed hair appearance ( J:260 , J:279 )

• at 3 days of age, mice are still pink due to sparse coat unlike wild-type mice that have developed a coat (J:260)

• initiation of each follicle type is delayed compared to in wild-type mice (J:279)

sparse hair ( J:260 , J:279 )

abnormal zigzag hair morphology ( J:279 )

• some zigzag hairs are narrow, curled, lacked constrictions, and contain small medullar cells which lack pigment unlike in wild-type mice

decreased zigzag hair amount ( J:260 , J:279 )

• only a small patch on the shoulders (J:260)

• zigzag hairs are absent in the middle of the dorsum (J:279)

abnormal hair follicle morphology ( J:279 )

• mice lack follicles in the quiescent stage and are abnormal with bulbs that are twisted and curved unlike in wild-type mice

abnormal vibrissa morphology ( J:279 )

• at E17, mystacial vibrissa are incomplete and post-orbital vibrissa are absent or reduced in size compared to in wild-type mice

• mice lack inter-ramal and anterior supra-orbital vibrissa unlike wild-type mice

• postoral and posterior supra-orbital vibrassa are decreased in number compared to in wild-type mice

abnormal vibrissa number ( J:260 )

• anterior vibrissae and their follicles are absent unlike in wild-type mice

short vibrissae ( J:279 )

• at E17, post-orbital vibrissa are shorter than normal