Phenotypes associated with this allele

• Allele Symbol: Ank^tm1.1Kng
• Allele Name: targeted mutation 1.1, David M Kingsley
• Allele ID: MGI:3715331
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ank^tm1.1Kng/Ank^tm1.1Kng	involves: 129 * C3H/HeJ * C57BL/6J * CBA/J * FVB/N	MGI:3715606
hm2	Ank^tm1.1Kng/Ank^tm1.1Kng	involves: 129S1/Sv * 129X1/SvJ * FVB/N	MGI:3715340
cx3	Ank^tm1.1Kng/Ank^tm1.1Kng Tg(282M13)1Kng/?	involves: 129 * C3H/HeJ * C57BL/6J * CBA/J * FVB/N	MGI:3715603
cx4	Ank^tm1.1Kng/Ank^tm1.1Kng Tg(282M13-Ank*M48T)1Kng/?	involves: 129 * C3H/HeJ * C57BL/6J * CBA/J * FVB/N	MGI:3715604
cx5	Ank^tm1.1Kng/Ank^tm1.1Kng Tg(282M13-Ank*G389R)1Kng/?	involves: 129 * C3H/HeJ * C57BL/6J * CBA/J * FVB/N	MGI:3715605

Genotype
MGI:3715606

hm1

• Allelic Composition: Ank^tm1.1Kng/Ank^tm1.1Kng
• Genetic Background: involves: 129 * C3H/HeJ * C57BL/6J * CBA/J * FVB/N

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

skeleton

abnormal cranium morphology ( J:122441 )

• skull bones are thicker and denser than in Ank^tm1.1Kng heterozygotes

abnormal basioccipital bone morphology ( J:122441 )

• the bone is increased in thickness

foramen magnum stenosis ( J:122441 )

• volumetric reconstructions of the foramen magnum from skulls of wild-type and Ank null mice at 23 weeks of age show that the entryway for the spinal cord was significantly smaller in mutant mice

abnormal temporal bone petrous part morphology ( J:122441 )

• the thickness of the petrous portion of the temporal bone is increased

fusion of middle ear ossicles ( J:122441 )

• middle ear bones are fused

decreased trabecular bone volume ( J:122441 )

• decreased ratio of bone:tissue volume (BV:TV) relative to wild type in the metaphyseal cancellous bone at both age 6 wk and age 6 mo

decreased compact bone thickness ( J:122441 )

• decreased metaphyseal cortical thickness at age 6 wk but not at age 6 mo

decreased trabecular bone connectivity density ( J:122441 )

• the bone is sparse

abnormal joint morphology ( J:122441 )

• crystal formation, joint fusion or immobility occurs by age 6

hearing/vestibular/ear

fusion of middle ear ossicles ( J:122441 )

• middle ear bones are fused

abnormal auditory bulla morphology ( J:122441 )

• he thickness of tympanic bulla is increased

craniofacial

abnormal cranium morphology ( J:122441 )

• skull bones are thicker and denser than in Ank^tm1.1Kng heterozygotes

abnormal basioccipital bone morphology ( J:122441 )

• the bone is increased in thickness

foramen magnum stenosis ( J:122441 )

• volumetric reconstructions of the foramen magnum from skulls of wild-type and Ank null mice at 23 weeks of age show that the entryway for the spinal cord was significantly smaller in mutant mice

abnormal temporal bone petrous part morphology ( J:122441 )

• the thickness of the petrous portion of the temporal bone is increased

fusion of middle ear ossicles ( J:122441 )

• middle ear bones are fused

Genotype
MGI:3715340

hm2

• Allelic Composition: Ank^tm1.1Kng/Ank^tm1.1Kng
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

mortality/aging

premature death ( J:122727 )

• mice die at 6 months of age with all of their joints in the limbs and axial skeleton became immobilized

skeleton

abnormal tooth hard tissue morphology ( J:122727 )

• the calcified materials surrounding the neck and tooth of all 12 molars is increased

• the neck thickness relative to the enamel cap width is increased

abnormal cementum morphology ( J:122727 )

• at 12 weeks, enlargement of the cementum

abnormal joint morphology ( J:122727 )

• bone volume is significantly increased and increases in severity with time ectopic cartilage depositions occurs

fused joints ( J:122727 )

• severe joint ankylosis

abnormal bone mineralization ( J:122727 )

• widespread joint mineralization

decreased joint mobility ( J:122727 )

• at 3 to 4 weeks, mice are unable to grasp with their forepaws due to loss of joint mobility

• joint mobility is decreased at 6 weeks and is more severe at 12 weeks similar to in Ank^ank homozygotes

• reduction in joint mobility in the forelimb joints is more severe than in the hindlimbs and distal joints in the hindlimbs are more severely affected than proximal joints

behavior/neurological

abnormal gait ( J:122727 )

• at 3 to 4 weeks, mice begin to walk with a stiff, flat-footed gait

craniofacial

abnormal tooth hard tissue morphology ( J:122727 )

• the calcified materials surrounding the neck and tooth of all 12 molars is increased

• the neck thickness relative to the enamel cap width is increased

abnormal cementum morphology ( J:122727 )

• at 12 weeks, enlargement of the cementum

growth/size/body

abnormal tooth hard tissue morphology ( J:122727 )

• the calcified materials surrounding the neck and tooth of all 12 molars is increased

• the neck thickness relative to the enamel cap width is increased

abnormal cementum morphology ( J:122727 )

• at 12 weeks, enlargement of the cementum

Genotype
MGI:3715603

cx3

• Allelic Composition: Ank^tm1.1Kng/Ank^tm1.1Kng; Tg(282M13)1Kng/?
• Genetic Background: involves: 129 * C3H/HeJ * C57BL/6J * CBA/J * FVB/N

skeleton

abnormal joint morphology ( J:122441 )

• partial rescue includes delay of onset and full rescue of some joints is accompanied by fusion of other joints

Genotype
MGI:3715604

cx4

• Allelic Composition: Ank^tm1.1Kng/Ank^tm1.1Kng; Tg(282M13-Ank*M48T)1Kng/?
• Genetic Background: involves: 129 * C3H/HeJ * C57BL/6J * CBA/J * FVB/N

skeleton

abnormal joint morphology ( J:122441 )

• joint defects are reduced in severity compared to Ank^tm1.1Kng homozygotes

• partial rescue includes delay of onset and full rescue of some joints is accompanied by fusion of other joints

Genotype
MGI:3715605

cx5

• Allelic Composition: Ank^tm1.1Kng/Ank^tm1.1Kng; Tg(282M13-Ank*G389R)1Kng/?
• Genetic Background: involves: 129 * C3H/HeJ * C57BL/6J * CBA/J * FVB/N

skeleton

abnormal joint morphology ( J:122441 )

• joint abnormalities are not rescued and are similar to those observed in Ank^tm1.1Kng homozygotes