Phenotypes associated with this allele

• Allele Symbol: Itpa^tm1Skmi
• Allele Name: targeted mutation 1, Kunihiko Sakumi
• Allele ID: MGI:4942407
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Itpa^tm1Skmi/Itpa^tm1Skmi	involves: 129S/SvEv * C57BL/6J	MGI:4942412

Genotype
MGI:4942412

hm1

• Allelic Composition: Itpa^tm1Skmi/Itpa^tm1Skmi
• Genetic Background: involves: 129S/SvEv * C57BL/6J

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

mortality/aging

postnatal lethality, complete penetrance ( J:169285 )

• mice die by P14

perinatal lethality, incomplete penetrance ( J:169285 )

• more than half of mice die prior to birth

prenatal lethality, incomplete penetrance ( J:169285 )

• more than half of mice die prior to birth

reproductive system

decreased male germ cell number ( J:169285 )

♂

cardiovascular system

abnormal heart morphology ( J:169285 )

abnormal myocardial fiber morphology ( J:169285 )

• myocardial fibers are disorganized compared to in wild-type fibers

• sarcomeres in myocardial fibers are decreased in number, exhibit broken structure, and are disorganized compared to in wild-type fibers

• myocardial fiber mitochondrial exhibit abnormal shape compared to in wild-type fibers

abnormal heart development ( J:169285 )

• hearts are smaller and immature, especially the ventricle region, compared with wild-type mice

small heart ( J:169285 )

heart hypoplasia ( J:169285 )

thin ventricular wall ( J:169285 )

irregular heartbeat ( J:169285 )

• heart movements are unsynchronized and jerky compared to in wild-type mice

growth/size/body

decreased body weight ( J:169285 )

postnatal growth retardation ( J:169285 )

integument

underdeveloped hair follicles ( J:169285 )

hyperkeratosis ( J:169285 )

• of the forestomach

hematopoietic system

extramedullary hematopoiesis ( J:169285 )

• mice exhibit decreased extramedullary hematopoiesis in the liver and spleen compared with wild-type mice

behavior/neurological

ataxia ( J:169285 )

• prior to death

cellular

decreased male germ cell number ( J:169285 )

♂

abnormal cell physiology ( J:169285 )

• cells accumulate inosine nucleotides unlike wild-type cells

respiratory system

abnormal breathing pattern ( J:169285 )

• prior to death

muscle

abnormal myocardial fiber morphology ( J:169285 )

• myocardial fibers are disorganized compared to in wild-type fibers

• sarcomeres in myocardial fibers are decreased in number, exhibit broken structure, and are disorganized compared to in wild-type fibers

• myocardial fiber mitochondrial exhibit abnormal shape compared to in wild-type fibers

abnormal sarcomere morphology ( J:169285 )

• sarcomeres in myocardial fibers are decreased in number, exhibit broken structure, and are disorganized compared to in wild-type fibers

absent Z line ( J:169285 )

• in the myocardial fibers