Phenotypes associated with this allele

• Allele Symbol: Tap1^tm1Hpl
• Allele Name: targeted mutation 1, Hidde Ploegh
• Allele ID: MGI:1858161
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tap1^tm1Hpl/Tap1^tm1Hpl	either: (involves: 129S2/SvPas * 129/Ola) or (involves: 129S2/SvPas * FVB)	MGI:2175691
cx2	B2m^tm1Jae/B2m^tm1Jae Tap1^tm1Hpl/Tap1^tm1Hpl	B6.129-B2m^tm1Jae Tap1^tm1Hpl	MGI:5009810
cx3	Msh2^tm1Htr/Msh2^tm1Htr Tap1^tm1Hpl/Tap1^tm1Hpl	involves: 129P2/OlaHsd * FVB	MGI:4429609

Genotype
MGI:2175691

hm1

• Allelic Composition: Tap1^tm1Hpl/Tap1^tm1Hpl
• Genetic Background: either: (involves: 129S2/SvPas * 129/Ola) or (involves: 129S2/SvPas * FVB)

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

immune system

immune system phenotype ( J:60782 )

N • no immune system abnormalites are detected

Genotype
MGI:5009810

cx2

• Allelic Composition: B2m^tm1Jae/B2m^tm1Jae; Tap1^tm1Hpl/Tap1^tm1Hpl
• Genetic Background: B6.129-B2m^tm1Jae Tap1^tm1Hpl

nervous system

enlarged lateral ventricles ( J:66246 )

• 52% of P13 mice and 57% of adult mice have enlarged lateral ventricles

abnormal lateral geniculate nucleus morphology ( J:66246 )

• area of the ipsilateral projection is increased compared to controls

• in some cases, multiple ectopic clusters of inputs are present in the medial areas of the LGN

• retinogeniculate axons, glomeruli and bouton appear normal

abnormal synaptic bouton morphology ( J:120941 )

• increase in size of excitatory presynaptic boutons

abnormal synapse morphology ( J:120941 )

• mice exhibit significantly fewer perforations at hippocampal synapses that wild-type

abnormal synaptic vesicle number ( J:120941 )

• presynaptic nerve terminals contain 10% more synaptic vesicles than wild-type

enhanced long-term potentiation ( J:66246 )

• LTP in response to tetanus is enhanced by approximately 227% as compared to wild type

abnormal miniature excitatory postsynaptic currents ( J:120941 )

• 40% increase in frequency in hippocampal neurons

• 100% increase in frequency in layer 4 cortical neurons

• median amplitude is similar to wild-type in hippocampal and layer 4 neurons

• treatment with the neural activity blocker, Tetrodotoxin (TTX), does not increase mEPSC in mutant hippocampal cultures in contrast to increases in both amplitude and frequency observed in wild-type

abnormal long-term depression ( J:66246 )

• 900 pulses at 1 Hz enhances baseline LTD, but LTD is unchanged in wild-type

reduced long-term depression ( J:66246 )

• 900 pulses at 0.5 Hz does not induce significant LTD in contrast to wild-type response

Genotype
MGI:4429609

cx3

• Allelic Composition: Msh2^tm1Htr/Msh2^tm1Htr; Tap1^tm1Hpl/Tap1^tm1Hpl
• Genetic Background: involves: 129P2/OlaHsd * FVB

neoplasm

increased tumor incidence ( J:45433 )

• mice that survive beyond 30 weeks exhibit a multitude of tumors types (erythroid, intestine, skin, uterus, mammary gland, lung, intestine, and hereditary nonpolyposis colorectal cancer)

increased gastrointestinal tumor incidence ( J:45433 )

• 80% of mice that survive beyond 30 weeks develop Hereditary Nonpolyposis Colon Cancer (HNPCC) tumors

increased mammary gland tumor incidence ( J:45433 )

• in mice that survive beyond 30 weeks

increased skin tumor incidence ( J:45433 )

• in mice that survive beyond 30 weeks

increased uterus tumor incidence ( J:45433 )

♀ • in mice that survive beyond 30 weeks

increased lung tumor incidence ( J:45433 )

• in mice that survive beyond 30 weeks

integument

increased mammary gland tumor incidence ( J:45433 )

• in mice that survive beyond 30 weeks

increased skin tumor incidence ( J:45433 )

• in mice that survive beyond 30 weeks

reproductive system

increased uterus tumor incidence ( J:45433 )

♀ • in mice that survive beyond 30 weeks

digestive/alimentary system

increased gastrointestinal tumor incidence ( J:45433 )

• 80% of mice that survive beyond 30 weeks develop Hereditary Nonpolyposis Colon Cancer (HNPCC) tumors

respiratory system

increased lung tumor incidence ( J:45433 )

• in mice that survive beyond 30 weeks

endocrine/exocrine glands

increased mammary gland tumor incidence ( J:45433 )

• in mice that survive beyond 30 weeks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Lynch syndrome		DOID:3883	OMIM:PS120435	J:45433