Phenotypes Associated with This Genotype

Genotype
MGI:3843462

• Allelic Composition: Avp^tm1Lja/Avp⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

behavior/neurological

increased fluid intake ( J:148012 )

• seen at 6 months of age

renal/urinary system

polyuria ( J:148012 )

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

nervous system

abnormal hypothalamus morphology ( J:148012 )

• decrease in the number of vasopressinergic neurons beginning at 2 months of age with near total loss by 18 months of age

abnormal hypothalamus physiology ( J:148012 )

• expression analysis suggests increased endoplasmic reticulum stress in vasopressinergic neurons

homeostasis/metabolism

abnormal circulating hormone level ( J:148012 )

• at 3, 6, 9, and 12 months of age circulating arginine vasopressin levels are decreased

• at 1 month of age following 24 hour water deprivation circulating arginine vasopressin levels are only 20% that of wild-type controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neurohypophyseal diabetes insipidus		DOID:12388	OMIM:125700	J:148012