Phenotypes Associated with This Genotype

Genotype
MGI:2673543

• Allelic Composition: Rad23b^tm1Gvh/Rad23b^tm1Gvh
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

premature death ( J:74288 )

• death between 0.5 and 1 year of age probably secondary to overall poor condition

perinatal lethality, incomplete penetrance ( J:74288 )

• only 10% of expected numbers of homozygotes found at birth

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:74288 )

• excessive washing activities

excessive scratching ( J:74288 )

• involved head, ears, and neckline

increased vertical activity ( J:74288 )

• jumping (n=3)

circling ( J:74288 )

cardiovascular system

abnormal vasculogenesis ( J:74288 )

• poor vascularization

craniofacial

cleft upper lip ( J:74288 )

• cleft lip is frequently seen in E13.5 to 19.5 embryos

cleft secondary palate ( J:74288 )

• one instance of cleft secondary palate due to imperfect closure of the palatine shelves of the maxilla

eyelid edema ( J:74288 )

• swelling of eyelids

digestive/alimentary system

cleft secondary palate ( J:74288 )

• one instance of cleft secondary palate due to imperfect closure of the palatine shelves of the maxilla

abnormal anus morphology ( J:74288 )

• swollen anus

rectal prolapse ( J:74288 )

abnormal feces composition ( J:74288 )

• soft oily feces

embryo

abnormal placenta morphology ( J:74288 )

• vascular basement membrane was thicker and darker than normal

abnormal trophoblast layer morphology ( J:74288 )

• swollen trophoblastic cells

endocrine/exocrine glands

abnormal Sertoli cell morphology ( J:74288 )

♂ • clusters of detatched sertioli cells found in the seminiferous tubules

small seminiferous tubules ( J:74288 )

♂ • small diameter and with an excess of interstitial tissue

small testis ( J:74288 )

♂

growth/size/body

cleft upper lip ( J:74288 )

• cleft lip is frequently seen in E13.5 to 19.5 embryos

cleft secondary palate ( J:74288 )

• one instance of cleft secondary palate due to imperfect closure of the palatine shelves of the maxilla

eyelid edema ( J:74288 )

• swelling of eyelids

decreased birth body size ( J:74288 )

• newborns much smaller than normal at birth and remain so throughout life

fetal growth retardation ( J:74288 )

• growth retardation between E13.5 and 19.5

immune system

blepharitis ( J:74288 )

conjunctivitis ( J:74288 )

reproductive system

abnormal Sertoli cell morphology ( J:74288 )

♂ • clusters of detatched sertioli cells found in the seminiferous tubules

small seminiferous tubules ( J:74288 )

♂ • small diameter and with an excess of interstitial tissue

small testis ( J:74288 )

♂

arrest of spermatogenesis ( J:74288 )

♂ • absent by day 15

reduced female fertility ( J:74288 )

♀ • reduced female fertility although follicular development normal

decreased litter size ( J:74288 )

• reduced female fertility although follicular development normal

male infertility ( J:74288 )

♂ • males are sterile

vision/eye

blepharitis ( J:74288 )

conjunctivitis ( J:74288 )

abnormal eye morphology ( J:74288 )

• animals avoid opening their eyes widely

eyelid edema ( J:74288 )

• swelling of eyelids

eyelids open at birth ( J:74288 )

• eyelids were not closed and fused as is normal between E15.5 and 19.5

• all other eye dysmorphology did not appear until 7 to 10 days of age

eye opacity ( J:74288 )

• some animals had "opaque eyes" but no further details were given

excessive tearing ( J:74288 )

• excessive eye fluid starting at 7 to 10 days of age

adipose tissue

decreased total body fat amount ( J:74288 )

• adults lack fatty tissue

homeostasis/metabolism

eyelid edema ( J:74288 )

• swelling of eyelids

integument

thin skin ( J:74288 )