Mouse Genome Informatics
hm1
    Lbric-J/Lbric-J
C57BL/6J-Lbric-J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• about 50% of homozygotes die in utero or shortly after birth
• about 50% of homozygotes die in utero or shortly after birth

growth/size
• at 2 weeks of age, homozygotes display decreased body size

hematopoietic system
• cells in spleen, lymph nodes, thymus, and Peyer's patches show nuclear chromatin clumping usually into -4 masses at periphery of nucleus
• lymphocytes in blood smears show heterochromatin clumping
• lymphocytes in spleens show discrete masses of heterochromatin at edge of nuclear membrane with no indentation of membrane, compared to pernuclear and perinucleolar heterochromatin in wild-type cells
• in blood smears, eosinophil nuclei are mostly bilobed, compared to band nuclei in wild-type
• in bone marrow, nuclei have single heterochromatin clump
• nuclei in blood smears vary in morphology from bilobed appearance to individual clump of heterochromatin, in contrast to polymorphonuclear appearance of wild-type nuclei
• in bone marrow, nuclei have single heterochromatin clump

immune system
• cells in spleen, lymph nodes, thymus, and Peyer's patches show nuclear chromatin clumping usually into -4 masses at periphery of nucleus
• lymphocytes in blood smears show heterochromatin clumping
• lymphocytes in spleens show discrete masses of heterochromatin at edge of nuclear membrane with no indentation of membrane, compared to pernuclear and perinucleolar heterochromatin in wild-type cells
• in blood smears, eosinophil nuclei are mostly bilobed, compared to band nuclei in wild-type
• in bone marrow, nuclei have single heterochromatin clump
• nuclei in blood smears vary in morphology from bilobed appearance to individual clump of heterochromatin, in contrast to polymorphonuclear appearance of wild-type nuclei
• in bone marrow, nuclei have single heterochromatin clump

nervous system
• occasional mutants exhibit hydrocephalus
• brains of mutants showing hydrocephalus display marked dilation of lateral ventricles

limbs/digits/tail
• some mutants (3 homozygotes analyzed) show syndactyly affecting one or more paws

cellular
• nuclei of various cell populations (including intestinal epithelial cells and cerebellar granule cells) display chromatin clumping

integument
• at 2 weeks of age, homozygotes can be identified by sparseness of fur
• histologically, mice display mild hyperplasia with orthokeratotic hyperkeratosis and dilation of piliary canals
• at 3-4 weeks, mice develop scales on tail and to lesser degree on truncal skin


Mouse Genome Informatics
hm2
    Lbric-J/Lbric-J
involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size
• by 9 days of age

immune system
• Pelger-Huet anomaly by 9 days of age
• chromatin clumping in spleen cells seen by electron microscopy

skeleton
• tibial growth plates are markedly disorganized
• immature trabecular bone with residual cartilage

limbs/digits/tail

hematopoietic system
• Pelger-Huet anomaly by 9 days of age
• chromatin clumping in spleen cells seen by electron microscopy

integument
• by 9 days of age
• ichthyosis by 9 days of age
• ichthyosis by 9 days of age

cellular
• Pelger-Huet anomaly by 9 days of age

Mouse Models of Human Disease
OMIM IDRef(s)
Ichthyosis Vulgaris 146700 J:143838
Pelger-Huet Anomaly; PHA 169400 J:143838


Mouse Genome Informatics
ht3
    Lbric-J/Lbr+
C57BL/6J-Lbric-J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
• in blood smears, nuclei of small number of granulocytes display decreased lobation compared to wild-type cells

immune system
• in blood smears, nuclei of small number of granulocytes display decreased lobation compared to wild-type cells


Mouse Genome Informatics
ht4
    Lbric-J/Lbrlym3
C57BL/6-Lbric-J/Lbrlym3
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
N
• mice are viable (J:180355)

immune system

hematopoietic system


Mouse Genome Informatics
cx5
    Lbric-J/Lbric-J
Tm7sf2tm1Fdp/Tm7sf2tm1Fdp

involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging


Mouse Genome Informatics
cx6
    Lbric-J/Lbric-J
Tm7sf2tm1Fdp/Tm7sf2+

involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• die at varying times prenatally

craniofacial
• in four embryos recovered at birth

skeleton
• in four embryos recovered at birth distal phalanges of the second and third digits are fused

hematopoietic system
• decreased hepatic extramedullary hematopoiesis in four embryos recovered at birth

digestive/alimentary system
• in four embryos recovered at birth

limbs/digits/tail
• in four embryos recovered at birth distal phalanges of the second and third digits are fused

growth/size
• in four embryos recovered at birth


Mouse Genome Informatics
cx7
    Lbric-J/Lbr+
Tm7sf2tm1Fdp/Tm7sf2tm1Fdp

involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• die by 14 days of age

growth/size
• normal at birth
• impaired growth at 10 days

behavior/neurological
• by 10 days of age
• by 10 days of age

nervous system
• vacuolation and demyelination seen in the spinal cord

skeleton
• bone development is markedly abnormal
• noticeably shorter than normal, like those of a young adult
• noticeably shorter than normal, like those of a young adult

hematopoietic system
• chromatin clumping in spleen cells seen by electron microscopy

homeostasis/metabolism
• marked reduction of sterol levels in the brain cortex

immune system
• chromatin clumping in spleen cells seen by electron microscopy