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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cenpjtm1a(EUCOMM)Wtsi
targeted mutation 1a, Wellcome Trust Sanger Institute
MGI:4432238
Summary 3 genotypes


Genotype
MGI:5509044
hm1
Allelic
Composition
Cenpjtm1a(EUCOMM)Wtsi/Cenpjtm1a(EUCOMM)Wtsi
Genetic
Background
B6Brd;B6N-Tyrc-Brd Cenpjtm1a(EUCOMM)Wtsi/Wtsi
Cell Lines EPD0028_7_G05
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cenpjtm1a(EUCOMM)Wtsi mutation (1 available); any Cenpj mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Generation of a mouse model of CENPJ-Seckel syndrome.

mortality/aging

growth/size/body
• sloping forehead
• runting between P0 and P21
• from 3-16 weeks, homozygotes were significantly smaller than controls
• mutant adult body weight is 64% of average control body weight
• mutant adult body length is 76% of the average control body length
• at E18.5, fetuses are shorter and weigh less

craniofacial
• incomplete or irregular ossification
• mild elevation
• incomplete or irregular ossification
• sloping forehead

limbs/digits/tail
• observed in the first digit of the left hind paw in 2 of 9 embryos
• clinodactyly is not observed
• described as anatomically disproportionate
• located closer to the greater tubercle than in controls
• sometimes bowed (6 of 15 mutant mice examined)
• very prominent medial epicondyle
• caudal vertebrae 2/3 and 7/8 are fused in 13 of 15 mutant mice

skeleton
• incomplete or irregular ossification
• mild elevation
• incomplete or irregular ossification
• described as anatomically disproportionate
• located closer to the greater tubercle than in controls
• sometimes bowed (6 of 15 mutant mice examined)
• very prominent medial epicondyle
• wider at iliac crests than in controls
• irregular ribcage, with crowding of some ribs
• one to two extra sacrocaudal transitional vertebrae are present
• caudal vertebrae 2/3 and 7/8 are fused in 13 of 15 mutant mice
• reduced intervertebral joint space in the lumbar and caudal regions
• attachment of ribs to sternum followed an irregular pattern affected by the location of the ossification centers of the sternum
• incomplete or irregular ossification of occipital and parietal bones

vision/eye
• angle is displaced anteriorly in some cases
• ciliary body processes are spaced far apart or blunted in mutant animals
• in some cases, the ciliary process morphology is abnormal
• iris base is shifted anteriorly in relationship to the ciliary body
• iris-lens adhesions are observed
• occasionally broken
• decreased inner canthal distance
• a high proportion of pups have closed eyes at P14
• photoreceptor nuclei are variably reduced in number and the columns are loosely packed or disorganized
• secondary anophthalmia observed at E18.5

behavior/neurological
N
• most tests of neurological function were normal, including open field, grip strength, tests in modified SHIRPA, ABR and hot plate assesment
• in a discrimination-based olfactory memory test, mutant mice are unable to recogize the familiar from unfamiliar animals after habituation 24 hours prior to the test
• no social investigation time differences were noted in the habituation-dishabituation test when mice are separated for only 10 minutes

nervous system
N
• total area of the hippocampus, corpus callosum, and dorsal third ventricle are unchanged
• total internal length of the pyramidal cell layer is similar to controls
• the length of the dentate gyrus is reduced compared to controls
• cortex, molecular, striatum radium, and striatum oriens layers are not significantly affected
• number of neurons is decreased in mutant embryos, and is especially significant in the striatum

taste/olfaction
N
• olfaction in mutant mice is not affected

cellular
• increase in the number of gamma-H2AX positive cells throughout mutant embryos, most notably in the telencephalon
• increase in the number of cleaved caspase-3 positive cells in mutant embryos
• pronounced and ongoing adrenal X-zone degeneration at 16 weeks of age, when this process is completed in controls, suggesting puberty delay

homeostasis/metabolism
• increase in the number of gamma-H2AX positive cells throughout mutant embryos, most notably in the telencephalon

endocrine/exocrine glands
• pronounced and ongoing adrenal X-zone degeneration at 16 weeks of age, when this process is completed in controls, suggesting puberty delay

reproductive system
• mutant females bear their first litter around four weeks later than controls

cardiovascular system

hematopoietic system

immune system

muscle

embryo
• increase in the number of cleaved caspase-3 positive cells in mutant embryos

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Seckel syndrome DOID:0050569 OMIM:PS210600
J:194085




Genotype
MGI:6262105
hm2
Allelic
Composition
Cenpjtm1a(EUCOMM)Wtsi/Cenpjtm1a(EUCOMM)Wtsi
Genetic
Background
B6Brd;B6N-Tyrc-Brd Cenpjtm1a(EUCOMM)Wtsi/Wtsi
Cell Lines EPD0028_7_G05
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cenpjtm1a(EUCOMM)Wtsi mutation (1 available); any Cenpj mutation (29 available)
Data Sources
phenotype observed in females
phenotype observed in males
N normal phenotype



Genotype
MGI:5781593
hm3
Allelic
Composition
Cenpjtm1a(EUCOMM)Wtsi/Cenpjtm1a(EUCOMM)Wtsi
Genetic
Background
B6JTyr;B6N-Cenpjtm1a(EUCOMM)Wtsi/Wtsi
Cell Lines EPD0028_7_G05
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cenpjtm1a(EUCOMM)Wtsi mutation (1 available); any Cenpj mutation (29 available)
Data Sources
phenotype observed in females
phenotype observed in males
N normal phenotype
adipose tissue

behavior/neurological
IMPC - WTSI
IMPC - WTSI

craniofacial

growth/size/body

homeostasis/metabolism

limbs/digits/tail

reproductive system

skeleton
IMPC - WTSI





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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory