Phenotypes associated with this allele

• Allele Symbol: Cep57^em1Jvd
• Allele Name: endonuclease-mediated mutation 1, Jan M A van Deursen
• Allele ID: MGI:6208802
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cep57^em1Jvd/Cep57^em1Jvd	involves: 129 * C57BL/6	MGI:6208866
ht2	Cep57^em1Jvd/Cep57^+	involves: 129 * C57BL/6	MGI:6208867
ht3	Cep57^em1Jvd/Cep57^em2Jvd	involves: 129 * C57BL/6 * FVB/N	MGI:6208871

Genotype
MGI:6208866

hm1

• Allelic Composition: Cep57^em1Jvd/Cep57^em1Jvd
• Genetic Background: involves: 129 * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:264300 )

• all mice fail to feed and die within 24 hours

embryonic lethality, incomplete penetrance ( J:264300 )

• fewer than expected mice are present at E13.5

skeleton

abnormal vertebral column morphology ( J:264300 )

• limited vertebral column curvature

abnormal vertebral body development ( J:264300 )

• underdeveloped and lacking defined borders

abnormal vertebral pedicle morphology ( J:264300 )

small vertebrae ( J:264300 )

abnormal bone ossification ( J:264300 )

• incomplete bifid vertebral body ossification with the S4 being the last vertebral body ossified

cellular

abnormal cell morphology ( J:264300 )

• most mouse embryonic fibroblasts exhibit supernumerary centrioles at metaphase due to improper timing of centriole disengagement in mitosis

• supernumerary centrioles in brain, lung, liver, intestine, kidney, skin and lower back soft tissue cells without affecting apoptosis rates

aneuploidy ( J:264300 )

• in cells isolated at birth from lung, liver, kidney, skin, brain, lumbar vertebrae and hematopoietic cells

• in lung adenoma cells

abnormal mitotic spindle morphology ( J:264300 )

• mouse embryonic fibroblasts exhibit aberrant spindles that mis-segregate chromosomes

limbs/digits/tail

short tail ( J:264300 )

curly tail ( J:264300 )

Genotype
MGI:6208867

ht2

• Allelic Composition: Cep57^em1Jvd/Cep57⁺
• Genetic Background: involves: 129 * C57BL/6

cellular

abnormal cell morphology ( J:264300 )

• intermediate levels of supernumerary centrioles in brain, lung, liver, intestine, kidney, skin and lower back soft tissue cells without affecting apoptosis rates

aneuploidy ( J:264300 )

• intermediate rates in hematopoietic cells

• however, rates are normal in lung, liver, kidney, skin, brain and lumbar vertebrae cells

neoplasm

increased tumor incidence ( J:264300 )

• tumors in more than half of mice at 16 months of age, with lung adenomas the more prevalent

• however, tumor spectrum is otherwise normal

increased incidence of tumors by chemical induction ( J:264300 )

• induced by DMBA

increased lung adenoma incidence ( J:264300 )

• with increased aneuploidy compared with normal tissue

homeostasis/metabolism

increased incidence of tumors by chemical induction ( J:264300 )

• induced by DMBA

respiratory system

increased lung adenoma incidence ( J:264300 )

• with increased aneuploidy compared with normal tissue

Genotype
MGI:6208871

ht3

• Allelic Composition: Cep57^em1Jvd/Cep57^em2Jvd
• Genetic Background: involves: 129 * C57BL/6 * FVB/N

cellular

abnormal cell morphology ( J:264300 )

• some mouse embryonic fibroblasts exhibit supernumerary centrioles at metaphase due to improper timing of centriole disengagement in mitosis