Phenotypes associated with this allele

• Allele Symbol: Avp^tm1Hari
• Allele Name: targeted mutation 1, Hiroshi Arima
• Allele ID: MGI:3843456
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Avp^tm1Hari/Avp^tm1Hari	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3843459
ht2	Avp^tm1Hari/Avp^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3843460

Genotype
MGI:3843459

hm1

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

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

mortality/aging

postnatal lethality, complete penetrance ( J:147993 )

• all die within 1 week of birth

homeostasis/metabolism

dehydration ( J:147993 )

• skin appears dry within a few days of birth

Genotype
MGI:3843460

ht2

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

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