All Phenotypes Cmah<tm1Avrk> MGI Mouse

Phenotypes associated with this allele

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

immune system

decreased follicular B cell number ( J:144035 )

• there is a selective loss of recirculating follicular phenotype B cells from the perisinusoidal niche of bone marrow

decreased marginal zone B cell number ( J:144035 )

• numbers of IgM^hiIgD^hiCD21^hiMZ B cell precursors (MZP), as well as IgM^hiIgD^lowCD21^hiMZ B cells are severely reduced in the spleen compared to controls

abnormal B cell activation ( J:144035 )

• splenic B cells stimulated with anti-IgM have enhanced calcium influx

• enhanced calcium influx was observed for newly formed B cells, follicular B cells, and marginal zone B cells

hematopoietic system

decreased follicular B cell number ( J:144035 )

• there is a selective loss of recirculating follicular phenotype B cells from the perisinusoidal niche of bone marrow

decreased marginal zone B cell number ( J:144035 )

• numbers of IgM^hiIgD^hiCD21^hiMZ B cell precursors (MZP), as well as IgM^hiIgD^lowCD21^hiMZ B cells are severely reduced in the spleen compared to controls

abnormal B cell activation ( J:144035 )

• splenic B cells stimulated with anti-IgM have enhanced calcium influx

• enhanced calcium influx was observed for newly formed B cells, follicular B cells, and marginal zone B cells

behavior/neurological

abnormal startle reflex ( J:122351 )

• abnormal startle response to acoustic stimuli; higher acoustic stimuli is required to increase startle response compared to controls with mutants showing a lower response to stimuli between 82 and 118 dB

impaired coordination ( J:122351 )

• mice show impaired coordination in the rotarod test in 1- and 3-day protocols

increased vertical activity ( J:122351 )

• in open field, vertical activity is increased

hearing/vestibular/ear

abnormal inner ear morphology ( J:122351 )

abnormal cochlear sensory epithelium morphology ( J:122351 )

• 9-month old mice have sensory epithelium abnormalities of the vestibular and auditory inner ear

abnormal organ of Corti morphology ( J:122351 )

• outer hair cell degeneration occurs with collapse of the outer organ of Corti in the basal turn

cochlear outer hair cell degeneration ( J:122351 )

• some mice exhibit degeneration throughout the cochlea

abnormal semicircular canal morphology ( J:122351 )

• semicircular canal organs show defects, albeit more subtle, similar to the acellular deposits on the vestibular otoconial epithelia

abnormal otolithic membrane morphology ( J:122351 )

• deposits of acellular material are present on the apical surface of the vestibular otoconial epithelia

impaired hearing ( J:122351 )

• at 9 months, mice have reduced hearing sensitivity across frequencies

homeostasis/metabolism

impaired wound healing ( J:122351 )

• wound repair is markedly delayed in mutants compared to wild-type mice, most noticeable in rate of wound closure between period of 4-9 days after wounding

nervous system

cochlear outer hair cell degeneration ( J:122351 )

• some mice exhibit degeneration throughout the cochlea

abnormal sensorimotor gating ( J:122351 )

• abnormal sensorimotor gating is exhibited

Allelic Composition	Cmah^tm1Avrk/Cmah^tm1Avrk Dock2^m1Hsd/Dock2^m1Hsd Siae^tm1.2Avrk/Siae^tm1.2Avrk
Genetic Background	B6NHsd.Cg-Siae^tm1.2Avrk Dock2^m1Hsd Cmah^tm1Avrk

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cmah^tm1Avrk mutation (5 available); any Cmah mutation (37 available)
Dock2^m1Hsd mutation (0 available); any Dock2 mutation (143 available)
Siae^tm1.2Avrk mutation (0 available); any Siae mutation (33 available)

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

immune system

decreased follicular B cell number ( J:144035 )

• there is a selective loss of recirculating follicular phenotype B cells from the perisinusoidal niche of bone marrow

decreased marginal zone B cell number ( J:144035 )

• numbers of IgM^hiIgD^hiCD21^hiMZ B cell precursors (MZP), as well as IgM^hiIgD^lowCD21^hiMZ B cells, are severely reduced in the spleen compared to controls

abnormal B cell activation ( J:144035 )

• splenic B cells stimulated with anti-IgM have enhanced calcium influx

• enhanced calcium influx was observed for newly formed B cells, follicular B cells, and marginal zone B cells

hematopoietic system

decreased follicular B cell number ( J:144035 )

• there is a selective loss of recirculating follicular phenotype B cells from the perisinusoidal niche of bone marrow

decreased marginal zone B cell number ( J:144035 )

• numbers of IgM^hiIgD^hiCD21^hiMZ B cell precursors (MZP), as well as IgM^hiIgD^lowCD21^hiMZ B cells, are severely reduced in the spleen compared to controls

abnormal B cell activation ( J:144035 )

• splenic B cells stimulated with anti-IgM have enhanced calcium influx

• enhanced calcium influx was observed for newly formed B cells, follicular B cells, and marginal zone B cells

Allelic Composition	Cmah^tm1Avrk/Cmah^tm1Avrk Dmd^mdx/Dmd^mdx
Genetic Background	involves: 129X1/SvJ * C57BL/10ScSn

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cmah^tm1Avrk mutation (5 available); any Cmah mutation (37 available)
Dmd^mdx mutation (31 available); any Dmd mutation (154 available)

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

mortality/aging

premature death ( J:164594 )

• 50% of mice dying by 11 months of age

• mice exhibit decreased life span compared with Dmd^mdx homozygotes

muscle

cardiac muscle necrosis ( J:164594 )

• by 3 months, mice exhibit necrotic foci in the heart unlike wild-type mice

skeletal muscle fibrosis ( J:164594 )

• in the quadriceps at 6 weeks of age

• fibrosis in the diaphragm is increased compared to in Dmd^mdx homozygotes

dystrophic muscle ( J:164594 )

• more severe than in Dmd^mdx homozygotes

muscle weakness ( J:164594 )

• at 8 months, mice exhibit impaired diaphragm and cardiac peak force compared with Dmd^mdx homozygotes

behavior/neurological

impaired coordination ( J:164594 )

• at 8 months on a rotarod to a greater extent than in Dmd^mdx homozygotes

abnormal gait ( J:164594 )

• at 8 months to a greater extent than in Dmd^mdx homozygotes

immune system

increased macrophage cell number ( J:164594 )

• in muscles compared to in Dmd^mdx homozygotes

increased monocyte cell number ( J:164594 )

• in muscles compared to in Dmd^mdx homozygotes

hematopoietic system

increased macrophage cell number ( J:164594 )

• in muscles compared to in Dmd^mdx homozygotes

increased monocyte cell number ( J:164594 )

• in muscles compared to in Dmd^mdx homozygotes

cardiovascular system

cardiac muscle necrosis ( J:164594 )

• by 3 months, mice exhibit necrotic foci in the heart unlike wild-type mice

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)
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