Phenotypes Associated with This Genotype

Genotype
MGI:4882033

• Allelic Composition: Pten^tm1Hwu/Pten^tm1Hwu; Tg(Tyr-cre)1Lru/0
• Genetic Background: B6.Cg-Pten^tm1Hwu Tg(Tyr-cre)1Lru

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

Smaller body size of Pten^tm1Hwu/Pten^tm1Hwu Tg(Tyr-cre)1Lru/0 (HM) mice at P20

mortality/aging

postnatal lethality, complete penetrance ( J:155110 )

• die between 13 and 20 days after birth

growth/size/body

slow postnatal weight gain ( J:155110 )

• although mutants are similar in weight and size as wild-type mice on P2, they fail to gain as much weight over the next 20 days as controls

digestive/alimentary system

abnormal intestine morphology ( J:155110 )

• mutants exhibit some intraluminal bubbles along the gastrointestinal tract

• mutants exhibit intestinal pseudoobstruction

distended cecum ( J:155110 )

• dilatation of the cecum

abnormal digestion ( J:155110 )

• mutants exhibit intestinal pseudoobstruction

nervous system

abnormal enteric nervous system morphology ( J:155110 )

• hypertrophy and hyperplasia of the myenteric and submucosal plexus in the enteric nervous system by 2 weeks of age resulting in ganglioneuromatosis

abnormal enteric ganglia morphology ( J:155110 )

• enteric ganglia are bigger than in wild-type at P15

abnormal enteric neuron morphology ( J:155110 )

• hyperplasia is observed in enteric neuronal cells at E17.5 while hypertrophy of enteric neuronal cells is only seen after birth and not during embryonic development

pigmentation

hyperpigmentation ( J:155110 )

• hyperpigmentation in the tail, pinna, paws, skin, and olfactory bulb

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
intestinal pseudo-obstruction		DOID:0080072		J:155110