All Phenotypes Lbr<ic-J> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lbr^ic-J/Lbr^ic-J	C57BL/6J-Lbr^ic-J	MGI:3790333
hm2	Lbr^ic-J/Lbr^ic-J	involves: 129S4/SvJae * C57BL/6	MGI:3829382
ht3	Lbr^ic-J/Lbr⁺	C57BL/6J-Lbr^ic-J	MGI:3790340
ht4	Lbr^ic-J/Lbr⁺	(NZW/LacJ x C57BL/6J-Lbr^ic-J/J)F1	MGI:5897270
ht5	Lbr^ic-J/Lbr^lym3	C57BL/6-Lbr^ic-J/Lbr^lym3	MGI:5308445
cx6	Lbr^ic-J/Lbr^ic-J Tm7sf2^tm1Fdp/Tm7sf2⁺	involves: 129S4/SvJae * C57BL/6	MGI:3829379
cx7	Lbr^ic-J/Lbr⁺ Tm7sf2^tm1Fdp/Tm7sf2^tm1Fdp	involves: 129S4/SvJae * C57BL/6	MGI:3829381
cx8	Lbr^ic-J/Lbr^ic-J Tm7sf2^tm1Fdp/Tm7sf2^tm1Fdp	involves: 129S4/SvJae * C57BL/6	MGI:3829378

♀	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

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

Allelic Composition	Lbr^ic-J/Lbr^ic-J
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lbr^ic-J mutation (1 available); any Lbr mutation (57 available)

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

growth/size/body

postnatal growth retardation ( J:143838 )

• by 9 days of age

immune system

abnormal neutrophil differentiation ( J:143838 )

• Pelger-Huet anomaly by 9 days of age

abnormal spleen morphology ( J:143838 )

• chromatin clumping in spleen cells seen by electron microscopy

skeleton

abnormal long bone epiphyseal plate morphology ( J:143838 )

• tibial growth plates are markedly disorganized

abnormal trabecular bone morphology ( J:143838 )

• immature trabecular bone with residual cartilage

limbs/digits/tail

syndactyly ( J:143838 )

hematopoietic system

abnormal neutrophil differentiation ( J:143838 )

• Pelger-Huet anomaly by 9 days of age

abnormal spleen morphology ( J:143838 )

• chromatin clumping in spleen cells seen by electron microscopy

integument

sparse hair ( J:143838 )

• by 9 days of age

dry skin ( J:143838 )

• ichthyosis by 9 days of age

scaly skin ( J:143838 )

• ichthyosis by 9 days of age

cellular

abnormal neutrophil differentiation ( J:143838 )

• Pelger-Huet anomaly by 9 days of age

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
ichthyosis vulgaris	DOID:1702	OMIM:146700	J:143838
Pelger-Huet anomaly	DOID:9631	OMIM:169400	J:143838

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lbr^ic-J mutation (1 available); any Lbr mutation (57 available)

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

hematopoietic system

abnormal granulocyte morphology ( J:80915 )

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

immune system

abnormal granulocyte morphology ( J:80915 )

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

Allelic Composition	Lbr^ic-J/Lbr⁺
Genetic Background	(NZW/LacJ x C57BL/6J-Lbr^ic-J/J)F1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lbr^ic-J mutation (1 available); any Lbr mutation (57 available)

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

hematopoietic system

enlarged spleen ( J:234168 )

• females, but not males, show splenomegaly at 9 months of age

abnormal neutrophil morphology ( J:234168 )

• neutrophils of both males and females show alternations in nuclear morphology

immune system

enlarged spleen ( J:234168 )

• females, but not males, show splenomegaly at 9 months of age

abnormal neutrophil morphology ( J:234168 )

• neutrophils of both males and females show alternations in nuclear morphology

increased susceptibility to systemic lupus erythematosus ( J:234168 )

• females develop lupus autoimmunity, with induction of several autoantibodies, including anti-modified histones, IgG2 antibodies recognizing chromatin, and IgM directed against calreticulin, kidney damage and splenomegaly

increased autoantibody level ( J:234168 )

• females show development of autoimmunity directed against components of the A-type lamina, but not lamin A/C itself

• anti-neutrophil autoreactivity mediated by IgM is directed against calreticulin, but not myeloperoxidase or proteinase 3, with 9 of 11 females showing detectable anti-calreticulin IgM titers

increased anti-nuclear antigen antibody level ( J:234168 )

• females exhibit an increase in serum anti-nuclear antibody levels

• females develop an anti-nuclear autoimmune response that selectively recognizes specific modified histones

increased anti-chromatin antibody level ( J:234168 )

• females exhibit an increase in serum titers of anti-chromatin antibodies

• IgG2a, IgG2b, IgG2c, and IgM are prevalent anti-chromatin immunoglobulin subtypes in sera

• however, distribution of anti-double stranded DNA does not differ from controls

renal/urinary system

abnormal kidney morphology ( J:234168 )

• females, but not males, develop kidney damage, with formation of inflammatory foci

abnormal renal glomerulus morphology ( J:234168 )

• females show glomerular deposition of immune complexes

glomerulosclerosis ( J:234168 )

• females exhibit moderate-to-severe glomerulosclerosis and tubulointerstitial fibrosis with perivascular infiltration of mononuclear cells

renal interstitial fibrosis ( J:234168 )

• females exhibit moderate-to-severe tubulointerstitial fibrosis

growth/size/body

enlarged spleen ( J:234168 )

• females, but not males, show splenomegaly at 9 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
systemic lupus erythematosus		DOID:9074	OMIM:152700 OMIM:300809 OMIM:605480 OMIM:608437 OMIM:609903 OMIM:609939 OMIM:610065 OMIM:610066 OMIM:612254 OMIM:612378 OMIM:613145 OMIM:614420	J:234168

Allelic Composition	Lbr^ic-J/Lbr^lym3
Genetic Background	C57BL/6-Lbr^ic-J/Lbr^lym3

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lbr^ic-J mutation (1 available); any Lbr mutation (57 available)
Lbr^lym3 mutation (0 available); any Lbr mutation (57 available)

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

mortality/aging

mortality/aging ( J:180355 )

N	• mice are viable

immune system

decreased leukocyte cell number ( J:180355 )

decreased lymphocyte cell number ( J:180355 )

hematopoietic system

decreased leukocyte cell number ( J:180355 )

decreased lymphocyte cell number ( J:180355 )

Allelic Composition	Lbr^ic-J/Lbr^ic-J Tm7sf2^tm1Fdp/Tm7sf2⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lbr^ic-J mutation (1 available); any Lbr mutation (57 available)
Tm7sf2^tm1Fdp mutation (0 available); any Tm7sf2 mutation (30 available)

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

mortality/aging

prenatal lethality, complete penetrance ( J:143838 )

• die at varying times prenatally

craniofacial

cleft palate ( J:143838 )

• in four embryos recovered at birth

skeleton

fused phalanges ( J:143838 )

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

hematopoietic system

extramedullary hematopoiesis ( J:143838 )

• decreased hepatic extramedullary hematopoiesis in four embryos recovered at birth

digestive/alimentary system

cleft palate ( J:143838 )

• in four embryos recovered at birth

limbs/digits/tail

fused phalanges ( J:143838 )

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

growth/size/body

cleft palate ( J:143838 )

• in four embryos recovered at birth

Allelic Composition	Lbr^ic-J/Lbr⁺ Tm7sf2^tm1Fdp/Tm7sf2^tm1Fdp
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

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

mortality/aging

postnatal lethality, complete penetrance ( J:143838 )

• die by 14 days of age

growth/size/body

postnatal growth retardation ( J:143838 )

• normal at birth

• impaired growth at 10 days

behavior/neurological

tremors ( J:143838 )

• by 10 days of age

ataxia ( J:143838 )

• by 10 days of age

nervous system

demyelination ( J:143838 )

• vacuolation and demyelination seen in the spinal cord

skeleton

abnormal skeleton development ( J:143838 )

• bone development is markedly abnormal

abnormal long bone epiphyseal plate proliferative zone ( J:143838 )

• noticeably shorter than normal, like those of a young adult

decreased width of hypertrophic chondrocyte zone ( J:143838 )

• noticeably shorter than normal, like those of a young adult

hematopoietic system

abnormal spleen morphology ( J:143838 )

• chromatin clumping in spleen cells seen by electron microscopy

homeostasis/metabolism

abnormal homeostasis ( J:143838 )

• marked reduction of sterol levels in the brain cortex

immune system

abnormal spleen morphology ( J:143838 )

• chromatin clumping in spleen cells seen by electron microscopy

Allelic Composition	Lbr^ic-J/Lbr^ic-J Tm7sf2^tm1Fdp/Tm7sf2^tm1Fdp
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

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

mortality/aging

embryonic lethality, complete penetrance ( J:143838 )

• die by E11.5

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 03/18/2025 MGI 6.24