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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cmahtm1Avrk
targeted mutation 1, Ajit Varki
MGI:3715527
Summary 3 genotypes


Genotype
MGI:3830715
cx1
Allelic
Composition
Cmahtm1Avrk/Cmahtm1Avrk
Dock2m1Hsd/Dock2m1Hsd
Genetic
Background
B6NHsd.Cg-Dock2m1Hsd Cmahtm1Avrk
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cmahtm1Avrk mutation (5 available); any Cmah mutation (37 available)
Dock2m1Hsd mutation (0 available); any Dock2 mutation (142 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• there is a selective loss of recirculating follicular phenotype B cells from the perisinusoidal niche of bone marrow
• numbers of IgMhiIgDhiCD21hiMZ B cell precursors (MZP), as well as IgMhiIgDlowCD21hiMZ B cells are severely reduced in the spleen compared to controls
• 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
• there is a selective loss of recirculating follicular phenotype B cells from the perisinusoidal niche of bone marrow
• numbers of IgMhiIgDhiCD21hiMZ B cell precursors (MZP), as well as IgMhiIgDlowCD21hiMZ B cells are severely reduced in the spleen compared to controls
• 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 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
• mice show impaired coordination in the rotarod test in 1- and 3-day protocols
• in open field, vertical activity is increased

hearing/vestibular/ear
• 9-month old mice have sensory epithelium abnormalities of the vestibular and auditory inner ear
• outer hair cell degeneration occurs with collapse of the outer organ of Corti in the basal turn
• some mice exhibit degeneration throughout the cochlea
• semicircular canal organs show defects, albeit more subtle, similar to the acellular deposits on the vestibular otoconial epithelia
• deposits of acellular material are present on the apical surface of the vestibular otoconial epithelia
• at 9 months, mice have reduced hearing sensitivity across frequencies

homeostasis/metabolism
• 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
• some mice exhibit degeneration throughout the cochlea
• abnormal sensorimotor gating is exhibited




Genotype
MGI:3830714
cx2
Allelic
Composition
Cmahtm1Avrk/Cmahtm1Avrk
Dock2m1Hsd/Dock2m1Hsd
Siaetm1.2Avrk/Siaetm1.2Avrk
Genetic
Background
B6NHsd.Cg-Siaetm1.2Avrk Dock2m1Hsd Cmahtm1Avrk
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cmahtm1Avrk mutation (5 available); any Cmah mutation (37 available)
Dock2m1Hsd mutation (0 available); any Dock2 mutation (142 available)
Siaetm1.2Avrk mutation (0 available); any Siae mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• there is a selective loss of recirculating follicular phenotype B cells from the perisinusoidal niche of bone marrow
• numbers of IgMhiIgDhiCD21hiMZ B cell precursors (MZP), as well as IgMhiIgDlowCD21hiMZ B cells, are severely reduced in the spleen compared to controls
• 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
• there is a selective loss of recirculating follicular phenotype B cells from the perisinusoidal niche of bone marrow
• numbers of IgMhiIgDhiCD21hiMZ B cell precursors (MZP), as well as IgMhiIgDlowCD21hiMZ B cells, are severely reduced in the spleen compared to controls
• 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




Genotype
MGI:4889211
cx3
Allelic
Composition
Cmahtm1Avrk/Cmahtm1Avrk
Dmdmdx/Dmdmdx
Genetic
Background
involves: 129X1/SvJ * C57BL/10ScSn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cmahtm1Avrk mutation (5 available); any Cmah mutation (37 available)
Dmdmdx mutation (30 available); any Dmd mutation (153 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 50% of mice dying by 11 months of age
• mice exhibit decreased life span compared with Dmdmdx homozygotes

muscle
• by 3 months, mice exhibit necrotic foci in the heart unlike wild-type mice
• in the quadriceps at 6 weeks of age
• fibrosis in the diaphragm is increased compared to in Dmdmdx homozygotes
• more severe than in Dmdmdx homozygotes
• at 8 months, mice exhibit impaired diaphragm and cardiac peak force compared with Dmdmdx homozygotes

behavior/neurological
• at 8 months on a rotarod to a greater extent than in Dmdmdx homozygotes
• at 8 months to a greater extent than in Dmdmdx homozygotes

immune system
• in muscles compared to in Dmdmdx homozygotes
• in muscles compared to in Dmdmdx homozygotes

hematopoietic system
• in muscles compared to in Dmdmdx homozygotes
• in muscles compared to in Dmdmdx homozygotes

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

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





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last database update
05/07/2024
MGI 6.23
The Jackson Laboratory