Phenotypes associated with this allele

• Allele Symbol: Nab1^tm1Jmi
• Allele Name: targeted mutation 1, Jeffrey Milbrandt
• Allele ID: MGI:3584131
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nab1^tm1Jmi/Nab1^tm1Jmi	involves: 129X1/SvJ	MGI:3603173
cx2	Nab1^tm1Jmi/Nab1^tm1Jmi Nab2^tm1Jmi/Nab2^tm1Jmi	involves: 129X1/SvJ	MGI:3603175

Genotype
MGI:3603173

hm1

• Allelic Composition: Nab1^tm1Jmi/Nab1^tm1Jmi
• Genetic Background: involves: 129X1/SvJ

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

normal phenotype

no abnormal phenotype detected ( J:99824 )

• homozygous mice are viable and fertile with normal myelination

Genotype
MGI:3603175

cx2

• Allelic Composition: Nab1^tm1Jmi/Nab1^tm1Jmi; Nab2^tm1Jmi/Nab2^tm1Jmi
• Genetic Background: involves: 129X1/SvJ

mortality/aging

postnatal lethality, complete penetrance ( J:99824 )

• double homozygotes are born in the expected numbers but do not survive past the 3 weeks of age

nervous system

increased Schwann cell proliferation ( J:99824 )

• 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

abnormal Schwann cell morphology ( J:99824 )

• in the sciatic nerve Schwann cells reach the promyelinating stage but only very rarely progress to the myelinating stage

abnormal myelination ( J:99824 )

• 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

skeleton

abnormal long bone hypertrophic chondrocyte zone ( J:99824 )

• a reduction in differentiating hypertrophic chondrocytes is seen in the proximal growth plate of the femur

decreased bone mineral density of femur ( J:99824 )

• hindlimb bones have reduced opacity and femur mineral density is 29 +/- 1.29% lower

growth/size/body

decreased body size ( J:99824 )

respiratory system

abnormal breathing pattern ( J:99824 )

• labored breathing

behavior/neurological

tremors ( J:99824 )

• severe tremors

impaired coordination ( J:99824 )

• double homozygotes display uncoordinated movements

weakness ( J:99824 )

reproductive system

reproductive system phenotype ( J:99824 )

N • testis morphology is normal

integument

increased keratinocyte proliferation ( J:99824 )

• a dramatic increase in keratinocyte proliferation is seen

hyperkeratosis ( J:99824 )

• hyperkeratinization is seen with abundant keratin overlying the epidermis and engorging the hair follicles

epidermal hyperplasia ( J:99824 )

• the thickness of the basal epidermal layer is expanded to 5-6 cells compared to 1 cell in wild-type mice

thick skin ( J:99824 )

• skin is thickened and ruffled shortly after birth

cellular

increased Schwann cell proliferation ( J:99824 )

• 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

increased keratinocyte proliferation ( J:99824 )

• a dramatic increase in keratinocyte proliferation is seen