Phenotypes associated with this allele

• Allele Symbol: Del(2Nespas-Gnas)1Hju
• Allele Name: deletion, Chr 2, Harald Juppner 1
• Allele ID: MGI:4459474
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Del(2Nespas-Gnas)1Hju/+	either: (involves: 129S4/SvJae) or (involves: 129S4/SvJae * C57BL/6J)	MGI:4459499

Genotype
MGI:4459499

ht1

• Allelic Composition: Del(2Nespas-Gnas)1Hju/+
• Genetic Background: either: (involves: 129S4/SvJae) or (involves: 129S4/SvJae * C57BL/6J)

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

mortality/aging

postnatal lethality, complete penetrance ( J:160293 )

• when this allele is inherited maternally, mice exhibit do not survive beyond P5

growth/size/body

decreased birth weight ( J:160293 )

• when this allele is inherited maternally

abnormal body size ( J:160293 )

• when this allele is inherited maternally, mice exhibit narrow bodies unlike wild-type mice

postnatal growth retardation ( J:160293 )

• when this allele is inherited maternally

cellular

abnormal DNA methylation ( J:160293 )

• when this allele is inherited maternally, mice exhibit demethylation and altered expression of genes around the allele compared with wild-type mice

abnormal imprinting ( J:160293 )

• when this allele is inherited maternally, mice exhibit uniparental phenotypes and demethylation with altered expression of genes around the allele compared with wild-type mice

maternal imprinting ( J:160293 )

homeostasis/metabolism

skin edema ( J:160293 )

• when this allele is inherited maternally

behavior/neurological

hyperactivity ( J:160293 )

• when this allele is inherited maternally

integument

skin edema ( J:160293 )

• when this allele is inherited maternally

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pseudohypoparathyroidism		DOID:4184	OMIM:612462	J:160293