Phenotypes Associated with This Genotype

Genotype
MGI:3790333

• Allelic Composition: Lbr^ic-J/Lbr^ic-J
• Genetic Background: C57BL/6J-Lbr^ic-J

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:80915 )

• about 50% of homozygotes die in utero or shortly after birth

prenatal lethality, incomplete penetrance ( J:80915 )

• about 50% of homozygotes die in utero or shortly after birth

growth/size/body

decreased body size ( J:80915 )

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

hematopoietic system

abnormal eosinophil morphology ( J:80915 )

• in blood smears, eosinophil nuclei are mostly bilobed, compared to band nuclei in wild-type

• in bone marrow, nuclei have single heterochromatin clump

abnormal neutrophil morphology ( J:80915 )

• 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

abnormal lymphocyte morphology ( J:80915 )

• 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

immune system

abnormal eosinophil morphology ( J:80915 )

• in blood smears, eosinophil nuclei are mostly bilobed, compared to band nuclei in wild-type

• in bone marrow, nuclei have single heterochromatin clump

abnormal neutrophil morphology ( J:80915 )

• 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

abnormal lymphocyte morphology ( J:80915 )

• 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

nervous system

hydrocephaly ( J:80915 )

• occasional mutants exhibit hydrocephalus

dilated lateral ventricle ( J:80915 )

• brains of mutants showing hydrocephalus display marked dilation of lateral ventricles

limbs/digits/tail

syndactyly ( J:80915 )

• some mutants (3 homozygotes analyzed) show syndactyly affecting one or more paws

cellular

abnormal cell nucleus morphology ( J:80915 )

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

integument

sparse hair ( J:80915 )

• at 2 weeks of age, homozygotes can be identified by sparseness of fur

dilated piliary canal ( J:80915 )

• dilation of the piliary canals

orthokeratosis ( J:80915 )

• orthokeratotic hyperkeratosis

epidermal hyperplasia ( J:80915 )

• histologically, mice display mild hyperplasia with orthokeratotic hyperkeratosis and dilation of piliary canals

scaly skin ( J:80915 )

• at 3-4 weeks, mice develop scales on tail and to lesser degree on truncal skin