normal phenotype
• homozygous mice are viable and fertile with normal myelination
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Allele Symbol Allele Name Allele ID |
Nab1tm1Jmi targeted mutation 1, Jeffrey Milbrandt MGI:3584131 |
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Summary |
2 genotypes
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• homozygous mice are viable and fertile with normal myelination
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• double homozygotes are born in the expected numbers but do not survive past the 3 weeks of age
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• at postnatal day 14 increased proliferation of Schwann cells is seen with 6.2 +/- 2.5% of the nuclei BrdU+ compared to less than 0.9% in wild-type or single homozygous mice
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• in the sciatic nerve Schwann cells reach the promyelinating stage but only very rarely progress to the myelinating stage
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• sciatic nerve sections display severe hypomelination of both large and small axons and the ratio of axon diameter to total myelinated fiber diameter is close to 1.0; however, hindbrain morphology is normal
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• a reduction in differentiating hypertrophic chondrocytes is seen in the proximal growth plate of the femur
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• hindlimb bones have reduced opacity and femur mineral density is 29 +/- 1.29% lower
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• labored breathing
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• double homozygotes display uncoordinated movements
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N |
• testis morphology is normal
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• a dramatic increase in keratinocyte proliferation is seen
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• hyperkeratinization is seen with abundant keratin overlying the epidermis and engorging the hair follicles
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• the thickness of the basal epidermal layer is expanded to 5-6 cells compared to 1 cell in wild-type mice
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• skin is thickened and ruffled shortly after birth
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• at postnatal day 14 increased proliferation of Schwann cells is seen with 6.2 +/- 2.5% of the nuclei BrdU+ compared to less than 0.9% in wild-type or single homozygous mice
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• a dramatic increase in keratinocyte proliferation is seen
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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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last database update 08/02/2024 MGI 6.24 |
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