Phenotypes associated with this allele

• Allele Symbol: Avp^tm1Lja
• Allele Name: targeted mutation 1, J Larry Jameson
• Allele ID: MGI:3843457
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Avp^tm1Lja/Avp^tm1Lja	involves: 129S1/Sv * 129X1/SvJ	MGI:3843461
ht2	Avp^tm1Lja/Avp^+	involves: 129S1/Sv * 129X1/SvJ	MGI:3843462

Genotype
MGI:3843461

hm1

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

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

mortality/aging

postnatal lethality, complete penetrance ( J:148012 )

• pups begin to die by P2 with no survivors found at weaning

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