Phenotypes associated with this allele

• Allele Symbol: Avp⁺
• Allele Name: wild type
• Allele ID: MGI:2430051
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Avp^tm1b(EUCOMM)Wtsi/Avp^+	C57BL/6N-Avp^tm1b(EUCOMM)Wtsi/H	MGI:5756774
ht2	Avp^tm1Lja/Avp^+	involves: 129S1/Sv * 129X1/SvJ	MGI:3843462
ht3	Avp^tm1Hari/Avp^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3843460
ht4	Avp^tm1.1(cre)Hze/Avp^+	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr	MGI:5522793

Genotype
MGI:5756774

ht1

• Allelic Composition: Avp^{tm1b(EUCOMM)Wtsi}/Avp⁺
• Genetic Background: C57BL/6N-Avp^{tm1b(EUCOMM)Wtsi}/H
• Cell Lines: EPD0339_3_H07

Data Sources

IMPC Data for Avp

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

behavior/neurological

impaired righting response ( J:211773 )

♀

IMPC - HAR

hematopoietic system

decreased neutrophil cell number ( J:211773 )

♂

IMPC - HAR

decreased large unstained cell number ( J:211773 )

♂

IMPC - HAR

increased lymphocyte cell number ( J:211773 )

♂

IMPC - HAR

homeostasis/metabolism

increased circulating total protein level ( J:211773 )

♂

IMPC - HAR

immune system

decreased neutrophil cell number ( J:211773 )

♂

IMPC - HAR

decreased large unstained cell number ( J:211773 )

♂

IMPC - HAR

increased lymphocyte cell number ( J:211773 )

♂

IMPC - HAR

Genotype
MGI:3843462

ht2

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

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

Genotype
MGI:3843460

ht3

• 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

Genotype
MGI:5522793

ht4

• Allelic Composition: Avp^{tm1.1(cre)Hze}/Avp⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr

normal phenotype

no abnormal phenotype detected ( J:202880 )

• Heterozygous mice are viable and fertile with no gross physical or behavioral abnormalities.