Phenotypes Associated with This Genotype

Genotype
MGI:3843460

• Allelic Composition: Avp^tm1Hari/Avp⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

behavior/neurological

increased fluid intake ( J:147993 )

• accompanies increased urine output

• increase in water intake is more severe in females than in males

• increase in water intake decreases in ovariectomized females

homeostasis/metabolism

abnormal hormone level ( J:147993 )

• progressive decline in pituitary arginine vasopressin levels beginning by 1 month of age

• decrease in pituitary arginine vasopressin levels is more severe in females than in males

decreased urine osmolality ( J:147993 )

• progressive decline in urine osmolality beginning by 1 month of age

• decrease in urine osmolality is more severe in females than in males

• decrease in urine osmolality decreases in ovariectomized females

renal/urinary system

decreased urine osmolality ( J:147993 )

• progressive decline in urine osmolality beginning by 1 month of age

• decrease in urine osmolality is more severe in females than in males

• decrease in urine osmolality decreases in ovariectomized females

polyuria ( J:147993 )

• progressive increase in urine volume beginning by 1 month of age

• polyuria is more severe in females than in males

• increase in urine volume decreases in ovariectomized females

nervous system

abnormal supraoptic nucleus morphology ( J:147993 )

• at 6 and 12 months of age, round inclusion bodies are seen

• the number and size of inclusions increases with age in males, while the size of inclusions increases with age but the number decreases in females

• the number of arginine vasopressin expressing neurons is decreased in females at 12 months of age

• at 1 month of age aggregates are seen in the lumen of the endoplasmic reticulum and to a lesser extent in the nucleus of arginine vasopressin expressing neurons

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neurohypophyseal diabetes insipidus		DOID:12388	OMIM:125700	J:147993