Phenotypes Associated with This Genotype

Genotype
MGI:3784460

• Allelic Composition: Del(6Ephb6-Trpv6)1Mhed/Del(6Ephb6-Trpv6)1Mhed
• Genetic Background: involves: 129S/SvEv

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

growth/size/body

decreased body weight ( J:133151 )

• body weight 13% lower than controls in the first week

slow postnatal weight gain ( J:133151 )

• body weight 20% lower than controls at 20 weeks

reproductive system

reduced fertility ( J:133151 )

reduced female fertility ( J:133151 )

♀ • females slow to become pregnant

decreased litter size ( J:133151 )

reduced male fertility ( J:133151 )

♂ • males rarely impregnate females and few pups are produced

behavior/neurological

abnormal maternal behavior ( J:133151 )

♀ • 20% of females show abnormal maternal behavior

♀ • poor nest building behavior

abnormal pup retrieval ( J:133151 )

♀ • poor pup retrieval

homeostasis/metabolism

increased circulating parathyroid hormone level ( J:133151 , J:136038 )

• serum parathyroid hormone levels significantly elevated to levels of controls on a calcium restricted diet (J:133151)

abnormal calcium ion homeostasis ( J:136038 )

• when fed a low calcium diet, mice exhibit reduced calcium transport compared to wild-type mice

abnormal vitamin D level ( J:133151 )

• serum 1,25-dihydroxyvitamin D levels significantly elevated to levels of controls on a calcium restricted diet

abnormal mineral level ( J:133151 )

• both intracellular and extracellular calcium is reduced in the epidermis

abnormal circulating calcium level ( J:133151 )

• 60% less serum accumulation within 5 to 30 minutes of oral administration

• on low calcium diets, 40-50% less accumulation in 5-30 minutes

abnormal urine osmolality ( J:133151 )

• varies in proportion to dietary calcium

• normal osmolality only on a high calcium diet

digestive/alimentary system

decreased intestinal calcium absorption ( J:133151 )

• deficient intestinal absorption of calcium

• low dietary calcium causes a 9.6X as opposes to 7.5X increase in calcium absorption

renal/urinary system

abnormal urine osmolality ( J:133151 )

• varies in proportion to dietary calcium

• normal osmolality only on a high calcium diet

oliguria ( J:133151 )

• urine volume decreases with increases in dietary calcium

skeleton

decreased bone mineral density of femur ( J:133151 )

• femoral mineral density is reduced on a normal calcium diet

immune system

dermatitis ( J:133151 )

• eczematous dermatitis in 20% of adults

integument

dermatitis ( J:133151 )

• eczematous dermatitis in 20% of adults

alopecia ( J:133151 )

• 80% show alopecia as soon as hair starts to grow

• alopecia improves with age

• 20% of adults with alopecia