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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Nfixtm1Aes
targeted mutation 1, Albrecht E Sippel
MGI:3714028
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Nfixtm1Aes/Nfixtm1Aes involves: 129S1/Sv * C57BL/6 MGI:3714196
ht2
Nfixtm1Aes/Nfix+ involves: 129S1/Sv * C57BL/6 MGI:3714266


Genotype
MGI:3714196
hm1
Allelic
Composition
Nfixtm1Aes/Nfixtm1Aes
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfixtm1Aes mutation (0 available); any Nfix mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all but two die between P21 and P28 (J:122250)
• all but two die between P21 and P28 (J:122250)

growth/size/body
• 25-30% smaller than wild-type (J:122250)
• 25-30% smaller than wild-type (J:122250)
• by P5, mutants are unable to gain weight as efficiently as wild-type and between P16 and P19, weight plateaus and then progressively decreases such that before death, weight is 60-70% of wild-type (J:122250)
• by P5, mutants are unable to gain weight as efficiently as wild-type and between P16 and P19, weight plateaus and then progressively decreases such that before death, weight is 60-70% of wild-type (J:122250)

craniofacial
• thinning of the cranial bones (J:122250)
• thinning of the cranial bones (J:122250)
• less pronounced cranial sutures (J:122250)
• less pronounced cranial sutures (J:122250)

nervous system
• by 3 weeks of age, develop hydrocephalus that progresses as mice age and is characterized by dilatation of the lateral brain ventricles and the third ventricle (J:122250)
• by 3 weeks of age, develop hydrocephalus that progresses as mice age and is characterized by dilatation of the lateral brain ventricles and the third ventricle (J:122250)
• partial agenesis of the corpus callosum; the callosal body is thin in rostral brain regions and is completely absent in more caudal regions (J:122250)
• partial agenesis of the corpus callosum; the callosal body is thin in rostral brain regions and is completely absent in more caudal regions (J:122250)

behavior/neurological
• when lifted by tails, draw limbs in toward their bodies (J:122250)
• when lifted by tails, draw limbs in toward their bodies (J:122250)

digestive/alimentary system
• thinning of the intestinal wall (J:122250)
• the small intestine shows reduced blood supply and contains a yellowish/brownish fluid (J:122250)
• thinning of the intestinal wall (J:122250)
• the small intestine shows reduced blood supply and contains a yellowish/brownish fluid (J:122250)

skeleton
• thinning of the cranial bones (J:122250)
• thinning of the cranial bones (J:122250)
• less pronounced cranial sutures (J:122250)
• less pronounced cranial sutures (J:122250)
• zone of columnar proliferating chondrocytes is severely reduced (J:122250)
• zone of columnar proliferating chondrocytes is severely reduced (J:122250)
• zone of hypertrophic chondrocytes is slightly reduced (J:122250)
• zone of hypertrophic chondrocytes is slightly reduced (J:122250)
• femurs exhibit an enlargement of the ephiphyseal growth plate due to an increase in the number of chondrocytes in the resting zone (J:122250)
• femurs exhibit an enlargement of the ephiphyseal growth plate due to an increase in the number of chondrocytes in the resting zone (J:122250)
• irregular in shape, the nucleus pulposus is smaller and sometimes fragmented, and in some disks, the lamellar organization of the collagen fibers in the annulus fibrosus is disturbed (J:122250)
• irregular in shape, the nucleus pulposus is smaller and sometimes fragmented, and in some disks, the lamellar organization of the collagen fibers in the annulus fibrosus is disturbed (J:122250)
• progressive degeneration of intervertebral disks such that the one surviving 7-month old mutant showed degenerative changes in the nucleus pulposus (J:122250)
• progressive degeneration of intervertebral disks such that the one surviving 7-month old mutant showed degenerative changes in the nucleus pulposus (J:122250)
• thoraco-thoracical hyperkyphosis (J:122250)
• thoraco-thoracical hyperkyphosis (J:122250)
• severe cervico-cervical hyperlordosis (J:122250)
• severe cervico-cervical hyperlordosis (J:122250)
• delay in ossification of vertebral bodies (J:122250)
• delay in ossification of vertebral bodies (J:122250)
• thin cortical bone (J:122250)
• thin cortical bone (J:122250)
• trabecular bone is reduced in mass (J:122250)
• trabecular bone is reduced in mass (J:122250)
• trabecular bone is thinner (J:122250)
• trabecular bone is thinner (J:122250)
• mineralization is decreased in the hind limbs and jawbones (J:122250)
• mineralization is decreased in the hind limbs and jawbones (J:122250)
• delay in ossification of vertebral bodies (J:122250)
• delay in ossification of vertebral bodies (J:122250)

vision/eye
• mutants are unable to fully open their eyes (J:122250)
• mutants are unable to fully open their eyes (J:122250)




Genotype
MGI:3714266
ht2
Allelic
Composition
Nfixtm1Aes/Nfix+
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfixtm1Aes mutation (0 available); any Nfix mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• slightly smaller than wild-type (J:122250)
• slightly smaller than wild-type (J:122250)

nervous system
• callosal body is thinner (J:122250)
• callosal body is thinner (J:122250)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory