Phenotypes associated with this allele

• Allele Symbol: Tbx15^tm1Akis
• Allele Name: targeted mutation 1, Andreas Kispert
• Allele ID: MGI:3574402
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tbx15^tm1Akis/Tbx15^tm1Akis	involves: 129P2/OlaHsd * NMRI	MGI:3574752

Genotype
MGI:3574752

hm1

• Allelic Composition: Tbx15^tm1Akis/Tbx15^tm1Akis
• Genetic Background: involves: 129P2/OlaHsd * NMRI

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

mortality/aging

neonatal lethality, complete penetrance ( J:96466 )

• homozygotes die within 1-2 days of birth when in mixed litters

• most homozygotes survive if most wild-type and heterozygous littermates are removed

pigmentation

abnormal coat/hair pigmentation ( J:96466 )

• on an agouti background dorsal expansion of the lighter hair of the belly region is seen

behavior/neurological

abnormal nursing ( J:96466 )

♀

craniofacial

abnormal neurocranium morphology ( J:96466 )

• the parietal and frontal bones are more widely separated than normal

abnormal occipital bone morphology ( J:96466 )

• at E18.5 the supra and lateral occipitals are prematurely fused

small basioccipital bone ( J:96466 )

• smaller than normal

• at E18.5 the upper part of the dens of the atlas is incorporated into the basioccipital bone

• at E18.5 the basioccipital bone is extended posteriorly

• at E13.5 the posterior edge appears rugged

abnormal foramen magnum morphology ( J:96466 )

• in adults and at E18.5 the foramen magnum, through which the spinal cord passes to the cranial cavity, is reduced in size

• in adults this is due to vertical displacement of the supraoccipital bone and reduction in size of the basioccipital bone

abnormal supraoccipital bone morphology ( J:96466 )

• displaced vertically

abnormal temporal bone morphology ( J:96466 )

• the glenoid and caudal processes are fused into a bony mass

• at E18.5, the glenoid process is widened

broad snout ( J:96466 )

• the nasal area is broad

abnormal ear position ( J:96466 )

• ear position is abnormal

growth/size/body

broad snout ( J:96466 )

• the nasal area is broad

abnormal ear position ( J:96466 )

• ear position is abnormal

decreased body size ( J:96466 )

• mutants are shorter and leaner through at least 1 year

hearing/vestibular/ear

abnormal ear position ( J:96466 )

• ear position is abnormal

limbs/digits/tail

abnormal limb bud morphology ( J:96466 )

• at E12.5, the mesenchymal condensation of the humerus in the forelimb bud is reduced in size as a result of decreased proliferation in the core region of the limb bud

• however, proliferation is normal in the peripheral region of the limb bud

abnormal phalanx morphology ( J:96466 )

• the length of the phalanges is slightly reduced

abnormal humerus morphology ( J:96466 )

abnormal deltoid tuberosity morphology ( J:96466 )

• less pronounced deltoid ridge

decreased diameter of humerus ( J:96466 )

• at E18.5 the humerus is thinner

short humerus ( J:96466 )

• in adults and at E18.5 the humerus is short

• at E13.5, E15.5, E18.5 and 3 months the length of the humerus is 88%, 83%, 81%, and 73.5% of wild-type, respectively

abnormal radius morphology ( J:96466 )

• the radius is sometimes twisted

short radius ( J:96466 )

• at E18.5 the radius is reduced in length

abnormal ulna morphology ( J:96466 )

• the ulna is sometimes twisted

short ulna ( J:96466 )

• at E18.5 the ulna is reduced in length

short femur ( J:96466 )

short metacarpal bones ( J:96466 )

• the length of the metacarpals is slightly reduced

short metatarsal bones ( J:96466 )

• the metatarsals are significantly shorter

muscle

decreased skeletal muscle mass ( J:96466 )

• total muscle mass is reduced; however muscle differentiation is normal

reproductive system

reduced fertility ( J:96466 )

skeleton

abnormal skeleton morphology ( J:96466 )

• a general reduction in bone size, widespread subtle changes in bone shape, and poor articulations are seen

abnormal neurocranium morphology ( J:96466 )

• the parietal and frontal bones are more widely separated than normal

abnormal occipital bone morphology ( J:96466 )

• at E18.5 the supra and lateral occipitals are prematurely fused

small basioccipital bone ( J:96466 )

• smaller than normal

• at E18.5 the upper part of the dens of the atlas is incorporated into the basioccipital bone

• at E18.5 the basioccipital bone is extended posteriorly

• at E13.5 the posterior edge appears rugged

abnormal foramen magnum morphology ( J:96466 )

• in adults and at E18.5 the foramen magnum, through which the spinal cord passes to the cranial cavity, is reduced in size

• in adults this is due to vertical displacement of the supraoccipital bone and reduction in size of the basioccipital bone

abnormal supraoccipital bone morphology ( J:96466 )

• displaced vertically

abnormal temporal bone morphology ( J:96466 )

• the glenoid and caudal processes are fused into a bony mass

• at E18.5, the glenoid process is widened

abnormal phalanx morphology ( J:96466 )

• the length of the phalanges is slightly reduced

abnormal humerus morphology ( J:96466 )

abnormal deltoid tuberosity morphology ( J:96466 )

• less pronounced deltoid ridge

decreased diameter of humerus ( J:96466 )

• at E18.5 the humerus is thinner

short humerus ( J:96466 )

• in adults and at E18.5 the humerus is short

• at E13.5, E15.5, E18.5 and 3 months the length of the humerus is 88%, 83%, 81%, and 73.5% of wild-type, respectively

abnormal radius morphology ( J:96466 )

• the radius is sometimes twisted

short radius ( J:96466 )

• at E18.5 the radius is reduced in length

abnormal ulna morphology ( J:96466 )

• the ulna is sometimes twisted

short ulna ( J:96466 )

• at E18.5 the ulna is reduced in length

short femur ( J:96466 )

short metacarpal bones ( J:96466 )

• the length of the metacarpals is slightly reduced

short metatarsal bones ( J:96466 )

• the metatarsals are significantly shorter

small clavicle ( J:96466 )

• the clavicle is smaller than normal

abnormal scapula morphology ( J:96466 )

abnormal acromion morphology ( J:96466 )

• at E18.5 the acromion is not yet ossified

small acromion ( J:96466 )

• the acromion is reduced in size

abnormal scapular spine morphology ( J:96466 )

• the spine is reduced in size

• at E18.5 the spine is not yet ossified

scapular bone foramen ( J:96466 )

• in adults and at E18.5 and E13.5 the scapula has a hole in the posterior half

small scapula ( J:96466 )

• in adults and at E18.5 and E13.5 the scapula is small

abnormal spine curvature ( J:96466 )

• at E18.5 the vertebral column lacks the normal S-bend resulting in the skull being perpendicular to the vertebral column

abnormal vertebrae morphology ( J:96466 )

abnormal thoracic vertebrae morphology ( J:96466 )

• the spinal process of the second thoracic vertebra is largely reduced

abnormal cervical vertebrae morphology ( J:96466 )

abnormal cervical atlas morphology ( J:96466 )

• at E13.5 the atlas is not fused

• at E18.5 the atlas is smaller and not fused

abnormal cervical axis morphology ( J:96466 )

• at E13.5 the axis is not fused

• at E18.5 the axis is smaller and not fused

abnormal odontoid process morphology ( J:96466 )

• at E18.5, the dens is split into 2 parts with the upper part incorporated into the basioccipital bone

decreased chondrocyte number ( J:96466 )

• at E15.5 the number of prehypertrophic chondrocytes is reduced as a result of decreased proliferation

abnormal skeleton development ( J:96466 )

• at E12.5 the mesenchymal template of the basioccipital bone is smaller than normal

delayed endochondral bone ossification ( J:96466 )

• endochondral ossification is delayed in early fetal stages

• at E15.5 and E18.5 the length of the ossified region is reduce to 71% and 78% of wild-type, respectively

vision/eye

ocular hypertelorism ( J:96466 )

embryo

abnormal limb bud morphology ( J:96466 )

• at E12.5, the mesenchymal condensation of the humerus in the forelimb bud is reduced in size as a result of decreased proliferation in the core region of the limb bud

• however, proliferation is normal in the peripheral region of the limb bud

integument

abnormal coat/hair pigmentation ( J:96466 )

• on an agouti background dorsal expansion of the lighter hair of the belly region is seen