Phenotypes Associated with This Genotype

Genotype
MGI:5315707

• Allelic Composition: Cdo1^tm1.1Mhst/Cdo1^tm1.1Mhst
• Genetic Background: involves: C57BL/6

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:182195 )

• born at expected frequency

• post natal lethality prior to weaning is high

• 71% of females and 83% of males survive to weaning

• no further deaths between weaning and 56 days of age

• maternal taurine supplementation completely corrects male but not female survival

growth/size/body

malocclusion ( J:182195 )

• variable severity

abnormal nose morphology ( J:182195 )

• foreshortened nose

abnormal nasal bone morphology ( J:182195 )

• laterally displaced

abnormal outer ear morphology ( J:182195 )

• "lack" of erect pinna

decreased birth weight ( J:182195 )

• low weight persisting until 56 days of age

slow postnatal weight gain ( J:182195 )

• lower daily weight gain

• maximum weight difference relative to controls is at 21 days of age (58% of controls)

• delayed exponential growth phase

decreased body length ( J:182195 )

• body length 93% of controls in both sexes

behavior/neurological

increased food intake ( J:182195 )

• average food intake for females is 15% higher than for female controls

• female food intake is 31% higher/gm of body weight than for controls

• male food intake is 8% higher/gm of body weight than for controls

abnormal motor capabilities/coordination/movement ( J:182195 )

abnormal limb posture ( J:182195 )

• plantigrade stance

decreased locomotor activity ( J:182195 )

• educed spontaneous activity

• reduced irritability

vision/eye

abnormal lacrimal gland physiology ( J:182195 )

• less lacrimation

abnormal eyelid morphology ( J:182195 )

narrow eye opening ( J:182195 )

• partial palpebral closure

delayed eyelid opening ( J:182195 )

• delayed 2-3 days

skeleton

abnormal axial skeleton morphology ( J:182195 )

abnormal cranium morphology ( J:182195 )

• irregular shape

malocclusion ( J:182195 )

• variable severity

abnormal nasal bone morphology ( J:182195 )

• laterally displaced

kyphosis ( J:182195 )

decreased bone mineral density ( J:182195 )

craniofacial

abnormal cranium morphology ( J:182195 )

• irregular shape

malocclusion ( J:182195 )

• variable severity

abnormal nose morphology ( J:182195 )

• foreshortened nose

abnormal nasal bone morphology ( J:182195 )

• laterally displaced

abnormal outer ear morphology ( J:182195 )

• "lack" of erect pinna

limbs/digits/tail

abnormal digit morphology ( J:182195 )

• bulbous tips on digits

abnormal forelimb morphology ( J:182195 )

• contracture of one or both forelimbs between 3 and 11 days of age

homeostasis/metabolism

increased cysteine level ( J:182195 )

• elevated hepatic cysteine

increased circulating cysteine level ( J:182195 )

• elevated plasma cysteine

decreased taurine level ( J:182195 )

• drastically reduced hepatic taurine

decreased circulating glucose level ( J:182195 )

• reduced 23%

decreased circulating insulin-like growth factor I level ( J:182195 )

• 70% lower

reproductive system

abnormal fertility/fecundity ( J:182195 )

• females are fertile and carry pregnancy to term but offspring fail to survive

male infertility ( J:182195 )

♂ • males sterile although mature sperm are present in the epididymis

respiratory system

abnormal nose morphology ( J:182195 )

• foreshortened nose

abnormal nasal bone morphology ( J:182195 )

• laterally displaced

abnormal pulmonary alveolar system morphology ( J:182195 )

• enlarged alveolar spaces at 8 weeks of age

abnormal pulmonary collagen fibril morphology ( J:182195 )

• thickened, fragmented, and disorganized elastic fibers in the lung parenchyma

hearing/vestibular/ear

abnormal outer ear morphology ( J:182195 )

• "lack" of erect pinna

endocrine/exocrine glands

abnormal lacrimal gland physiology ( J:182195 )

• less lacrimation

cardiovascular system

abnormal pulmonary artery morphology ( J:182195 )

• thickened, fragmented, and disorganized elastic fibers in the intima of intra acinar and preacinar pulmonary vessels