Phenotypes associated with this allele

• Allele Symbol: Nfix^tm1Aes
• Allele Name: targeted mutation 1, Albrecht E Sippel
• Allele ID: MGI:3714028
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nfix^tm1Aes/Nfix^tm1Aes	involves: 129S1/Sv * C57BL/6	MGI:3714196
ht2	Nfix^tm1Aes/Nfix^+	involves: 129S1/Sv * C57BL/6	MGI:3714266

Genotype
MGI:3714196

hm1

• Allelic Composition: Nfix^tm1Aes/Nfix^tm1Aes
• Genetic Background: involves: 129S1/Sv * C57BL/6

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

mortality/aging

lethality at weaning, incomplete penetrance ( J:122250 )

• all but two die between P21 and P28

growth/size/body

megacephaly ( J:122250 )

decreased body size ( J:122250 )

• 25-30% smaller than wild-type

weight loss ( 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

craniofacial

abnormal craniofacial bone morphology ( J:122250 )

• thinning of the cranial bones

abnormal cranial suture morphology ( J:122250 )

• less pronounced cranial sutures

domed cranium ( J:122250 )

nervous system

hydrocephaly ( 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

dilated lateral ventricle ( J:122250 )

dilated third ventricle ( J:122250 )

abnormal corpus callosum morphology ( 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

behavior/neurological

limb grasping ( J:122250 )

• when lifted by tails, draw limbs in toward their bodies

ataxia ( J:122250 )

digestive/alimentary system

abnormal small intestine morphology ( J:122250 )

• thinning of the intestinal wall

• the small intestine shows reduced blood supply and contains a yellowish/brownish fluid

skeleton

abnormal craniofacial bone morphology ( J:122250 )

• thinning of the cranial bones

abnormal cranial suture morphology ( J:122250 )

• less pronounced cranial sutures

domed cranium ( J:122250 )

abnormal long bone epiphyseal plate morphology ( J:122250 )

abnormal long bone epiphyseal plate proliferative zone ( J:122250 )

• zone of columnar proliferating chondrocytes is severely reduced

abnormal long bone hypertrophic chondrocyte zone ( J:122250 )

• zone of hypertrophic chondrocytes is slightly reduced

increased long bone epiphyseal plate size ( J:122250 )

• femurs exhibit an enlargement of the ephiphyseal growth plate due to an increase in the number of chondrocytes in the resting zone

abnormal intervertebral disk morphology ( 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

intervertebral disk degeneration ( J:122250 )

• progressive degeneration of intervertebral disks such that the one surviving 7-month old mutant showed degenerative changes in the nucleus pulposus

abnormal spine curvature ( J:122250 )

kyphosis ( J:122250 )

• thoraco-thoracical hyperkyphosis

lordosis ( J:122250 )

• severe cervico-cervical hyperlordosis

scoliosis ( J:122250 )

abnormal vertebral body morphology ( J:122250 )

• delay in ossification of vertebral bodies

decreased compact bone thickness ( J:122250 )

• thin cortical bone

decreased trabecular bone mass ( J:122250 )

• trabecular bone is reduced in mass

decreased trabecular bone thickness ( J:122250 )

• trabecular bone is thinner

abnormal bone mineralization ( J:122250 )

• mineralization is decreased in the hind limbs and jawbones

delayed bone ossification ( J:122250 )

• delay in ossification of vertebral bodies

delayed endochondral bone ossification ( J:122250 )

vision/eye

abnormal timing of postnatal eyelid opening ( J:122250 )

• mutants are unable to fully open their eyes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Scheuermann's disease		DOID:13300	OMIM:181440	J:122250

Genotype
MGI:3714266

ht2

• Allelic Composition: Nfix^tm1Aes/Nfix⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6

growth/size/body

decreased body size ( J:122250 )

• slightly smaller than wild-type

nervous system

abnormal corpus callosum morphology ( J:122250 )

• callosal body is thinner