Phenotypes associated with this allele

• Allele Symbol: Aktip^{tm1a(EUCOMM)Hmgu}
• Allele Name: targeted mutation 1a, Helmholtz Zentrum Muenchen GmbH
• Allele ID: MGI:4435660
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Aktip^tm1a(EUCOMM)Hmgu/Aktip^tm1a(EUCOMM)Hmgu	C57BL/6N-Aktip^tm1a(EUCOMM)Hmgu	MGI:6315471
cx2	Aktip^tm1a(EUCOMM)Hmgu/Aktip^tm1a(EUCOMM)Hmgu Trp53^tm1Tyj/Trp53^+	involves: 129S2/SvPas * C57BL/6N	MGI:6315472
cx3	Aktip^tm1a(EUCOMM)Hmgu/Aktip^tm1a(EUCOMM)Hmgu Trp53^tm1Tyj/Trp53^tm1Tyj	involves: 129S2/SvPas * C57BL/6N	MGI:6315473

Genotype
MGI:6315471

hm1

• Allelic Composition: Aktip^{tm1a(EUCOMM)Hmgu}/Aktip^{tm1a(EUCOMM)Hmgu}
• Genetic Background: C57BL/6N-Aktip^{tm1a(EUCOMM)Hmgu}
• Cell Lines: HEPD0589_6_H06

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

mortality/aging

premature death ( J:276210 )

• median lifespan is 113 weeks

postnatal lethality ( J:276210 )

• severely affected mice dying at 12 to 14 days

reproductive system

male infertility ( J:276210 )

♂

skeleton

skeleton phenotype ( J:276210 )

N • mice exhibit normal osteoclast numbers

abnormal skeleton morphology ( J:276210 )

• reduced skeleton size

short femur ( J:276210 )

short tibia ( J:276210 )

small caudal vertebrae ( J:276210 )

decreased long bone epiphyseal plate size ( J:276210 )

• slightly

kyphosis ( J:276210 )

abnormal vertebral epiphyseal plate morphology ( J:276210 )

• however, the marrow cavity forms regularly

decreased bone mineral density ( J:276210 )

abnormal trabecular bone morphology ( J:276210 )

• newly formed bone trabeculae are shorter than in wild-type mice

cellular

increased cellular sensitivity to DNA damaging agents ( J:276210 )

• of mouse embryonic fibroblasts in response to bleomycin

increased cellular sensitivity to hydroxyurea ( J:276210 )

• of mouse embryonic fibroblasts

decreased fibroblast proliferation ( J:276210 )

• in mouse embryonic fibroblasts

cardiovascular system

abnormal heart morphology ( J:276210 )

• increased nuclear to cytoplasmic ratio

small heart ( J:276210 )

adipose tissue

decreased subcutaneous adipose tissue amount ( J:276210 )

• in severely affected mice

decreased total body fat amount ( J:276210 )

• in severely affected mice

growth/size/body

decreased body weight ( J:276210 )

• in severely affected mice

integument

decreased subcutaneous adipose tissue amount ( J:276210 )

• in severely affected mice

craniofacial

abnormal craniofacial morphology ( J:276210 )

neoplasm

neoplasm ( J:276210 )

N • mice exhibit no increase in malignant tumors

limbs/digits/tail

short femur ( J:276210 )

short tibia ( J:276210 )

small caudal vertebrae ( J:276210 )

Genotype
MGI:6315472

cx2

• Allelic Composition: Aktip^{tm1a(EUCOMM)Hmgu}/Aktip^{tm1a(EUCOMM)Hmgu}; Trp53^tm1Tyj/Trp53⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6N
• Cell Lines: HEPD0589_6_H06

mortality/aging

premature death ( J:276210 )

• more so than in Aktip^{tm1a(EUCOMM)Hmgu} homozygotes with all mice dead before 55 weeks of age

reproductive system

reproductive system phenotype ( J:276210 )

N • male fertility observed in Aktip^{tm1a(EUCOMM)Hmgu} homozygotes is rescued

cellular

cellular phenotype ( J:276210 )

N • mouse embryonic fibroblast do not exhibit increased sensitivity to bleomycin or hydroxyurea unlike cells from Aktip^{tm1a(EUCOMM)Hmgu} homozygotes

increased fibroblast proliferation ( J:276210 )

• in mouse embryonic fibroblasts

neoplasm

increased lymphoma incidence ( J:276210 )

• multiorgan in all mice

growth/size/body

decreased body weight ( J:276210 )

• after 31 weeks of age but less than in Aktip^{tm1a(EUCOMM)Hmgu} homozygotes

• however, weight up to 24th week is normal

Genotype
MGI:6315473

cx3

• Allelic Composition: Aktip^{tm1a(EUCOMM)Hmgu}/Aktip^{tm1a(EUCOMM)Hmgu}; Trp53^tm1Tyj/Trp53^tm1Tyj
• Genetic Background: involves: 129S2/SvPas * C57BL/6N
• Cell Lines: HEPD0589_6_H06

reproductive system

reproductive system phenotype ( J:276210 )

N • male fertility observed in Aktip^{tm1a(EUCOMM)Hmgu} homozygotes is rescued

immune system

peritoneal inflammation ( J:276210 )

• in most mice, more so than in Aktip^{tm1a(EUCOMM)Hmgu} homozygotes

liver inflammation ( J:276210 )

• in most mice, more so than in Aktip^{tm1a(EUCOMM)Hmgu} homozygotes

kidney inflammation ( J:276210 )

• in most mice, more so than in Aktip^{tm1a(EUCOMM)Hmgu} homozygotes

lung inflammation ( J:276210 )

• in most mice, more so than in Aktip^{tm1a(EUCOMM)Hmgu} homozygotes

neoplasm

increased lymphoma incidence ( J:276210 )

• multiorgan in half of mice, single organ in the other half

growth/size/body

decreased body weight ( J:276210 )

• after 31 weeks of age but less than in Aktip^{tm1a(EUCOMM)Hmgu} homozygotes

• however, weight up to 24th week is normal

liver/biliary system

liver inflammation ( J:276210 )

• in most mice, more so than in Aktip^{tm1a(EUCOMM)Hmgu} homozygotes

digestive/alimentary system

peritoneal inflammation ( J:276210 )

• in most mice, more so than in Aktip^{tm1a(EUCOMM)Hmgu} homozygotes

renal/urinary system

kidney inflammation ( J:276210 )

• in most mice, more so than in Aktip^{tm1a(EUCOMM)Hmgu} homozygotes

respiratory system

lung inflammation ( J:276210 )

• in most mice, more so than in Aktip^{tm1a(EUCOMM)Hmgu} homozygotes

skeleton

abnormal bone marrow cavity morphology ( J:276210 )

• bone marrow aplasia in most mice, more so than in Aktip^{tm1a(EUCOMM)Hmgu} homozygotes