Phenotypes associated with this allele

• Allele Symbol: Jph4^tm1Hta
• Allele Name: targeted mutation 1, Hiroshi Takeshima
• Allele ID: MGI:3663386
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Jph4^tm1Hta/Jph4^tm1Hta	involves: 129S4/SvJae * C57BL/6J	MGI:6161254
cx2	Jph3^tm1Hta/Jph3^tm1Hta Jph4^tm1Hta/Jph4^tm1Hta	involves: 129S4/SvJae * C57BL/6J	MGI:3663460

Genotype
MGI:6161254

hm1

• Allelic Composition: Jph4^tm1Hta/Jph4^tm1Hta
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

homeostasis/metabolism

abnormal calcium ion homeostasis ( J:230995 )

• a significant reduction in store-operated Ca2+ entry in homozygous mutant naive T cells after passive store depletion or TCR cross-linking

• knockout primary T cells also show a significant reduction in ER Ca2+ content

• knockout effector T cells differentiated under nonpolarizing conditions show diminished store-operated Ca2+ entry after TCR cross-linking

abnormal interleukin level ( J:230995 )

• reduced IL-2 expression in homozygous mutant T cells

immune system

abnormal T cell activation ( J:230995 )

• reduced expression of CD69, a T-cell activation marker, and reduced ERK activation in homozygous mutant T cells

abnormal interleukin level ( J:230995 )

• reduced IL-2 expression in homozygous mutant T cells

hematopoietic system

abnormal T cell activation ( J:230995 )

• reduced expression of CD69, a T-cell activation marker, and reduced ERK activation in homozygous mutant T cells

growth/size/body

growth/size/body region phenotype ( J:111805 )

N • homozygous mice show no significant abnormalities in development or appearance

reproductive system

reproductive system phenotype ( J:111805 )

N • homozygous mice show no significant abnormalities in reproduction

Genotype
MGI:3663460

cx2

• Allelic Composition: Jph3^tm1Hta/Jph3^tm1Hta; Jph4^tm1Hta/Jph4^tm1Hta
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

Irregular hindlimb reflex in Jph3^tm1Hta/Jph3^tm1Hta Jph4^tm1Hta/Jph4^tm1Hta mice

mortality/aging

lethality at weaning, incomplete penetrance ( J:111805 )

• mice display high lethality 3-4 weeks after birth

• survival is increased when mice are fed wet mash food

growth/size/body

decreased body size ( J:111805 )

• conventionally-housed mutants display severe growth retardation after birth

behavior/neurological

abnormal learning/memory/conditioning ( J:111805 )

• mice display poor alternation of arm entry suggesting impairment of shor-term spatial memory

abnormal passive avoidance behavior ( J:111805 )

• in training trials in passive avoidance test, mutants show a much greater latency than controls during first session but show normal behavior during acquisition trials

impaired long-term object recognition memory ( J:111805 )

• during retention trials in the avoidance tests, latency showed by mutants is much less than that of controls indicating impaired long-term memory

decreased exploration in new environment ( J:111805 )

• mice display low counts for arm entry in Y-maze tests indicating impaired exploratory behavior

abnormal food intake ( J:111805 )

• observed lethality is due to feeding defect; when dry pellets are switched to hydrated paste, mutants are rescued

limb grasping ( J:111805 )

decreased locomotor activity ( J:111805 )

• initially in open-field test, mice show hypolocomotion activity compared to wild-type mice; after a habituation period there is no detectable difference between genotypes

nervous system

abnormal afterhyperpolarization ( J:111805 )

• in CA1 hippocampal neurons, apamin-sensitive afterhyperpolarization is absent in mutants but observed in controls

abnormal excitatory postsynaptic potential ( J:111805 )

• unlike wild-type neurons, EPSP profile is unaffected by treatments inducing dysfunctional Ca ²⁺ release by the endoplasmic reticulum

• high frequency stimulation (HFS) results in immediate enhancement of EPSP potentiation, but this quickly attenuates whereas in controls, HFS causes a stable long-lasting potentiation of EPSPs

reduced long-term potentiation ( J:111805 )

• after HFS, a significantly smaller LTP is observed compared to control LTP

reproductive system

infertility ( J:111805 )

• most mature mutants (>90%) that survive are infertile