Phenotypes associated with this allele

• Allele Symbol: Gsc^tm1Pgr
• Allele Name: targeted mutation 1, Peter Gruss
• Allele ID: MGI:1857496
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gsc^tm1Pgr/Gsc^tm1Pgr	either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL)	MGI:3839550
hm2	Gsc^tm1Pgr/Gsc^tm1Pgr	involves: 129S1/Sv * 129X1/SvJ	MGI:2166814
cx3	Gsc^tm1Pgr/Gsc^tm1Pgr Msx1^tm1Rilm/Msx1^tm1Rilm	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ	MGI:3839559

Genotype
MGI:3839550

hm1

• Allelic Composition: Gsc^tm1Pgr/Gsc^tm1Pgr
• Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL)

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

skeleton

abnormal basicranium morphology ( J:46948 )

• mice exhibit a loss of cartilage and bone in the base of the cranium compared to in wild-type mice

abnormal presphenoid bone morphology ( J:46948 )

• the ethmoid and presphenoid are fused unlike in wild-type mice

presphenoid bone hypoplasia ( J:46948 )

abnormal ethmoid bone morphology ( J:46948 )

• the ethmoid and presphenoid are fused unlike in wild-type mice

small cribriform plate ( J:46948 )

• the cribriform plate is reduced compared to in wild-type mice

abnormal vomer bone morphology ( J:46948 )

• reduced and displaced closer to the presphenoid

small vomer bone ( J:46948 )

abnormal humerus morphology ( J:46948 )

• the humerus head is abnormal

abnormal femur head morphology ( J:46948 )

• the femur head is abnormal

abnormal trochanter morphology ( J:46948 )

• the lesser trochanter is enlarged compared to in wild-type mice

abnormal glenoid fossa morphology ( J:46948 )

• the glenoid cavity in the shoulder is malformed

abnormal scapular coracoid process morphology ( J:46948 )

• the coracoid process is reduced compared to in wild-type mice

small ischium ( J:46948 )

• the ishium is reduced leading to a deformation in the coxal bone seen as a reduction of the obturator foramen and anterior protrusion of the pubic symphysis

abnormal obturator foramen morphology ( J:46948 )

• reduction of the obturator foramen

increased rib number ( J:46948 )

• in 13% of mice at C7

rib fusion ( J:46948 )

• rib 1 and rib 2 are fused in 10% of mice

cervical vertebral transformation ( J:46948 )

• a few mice exhibit weak homeotic transformation with the seventh vertebrae exhibiting anterior ossification of the transverse process unlike in wild-type mice

abnormal joint morphology ( J:46948 )

• mice exhibit malformations in the shoulder and hip joints

abnormal shoulder joint morphology ( J:46948 )

• mice exhibit malformations in the shoulder joints

abnormal hip joint morphology ( J:46948 )

• mice exhibit malformations in the hip joints

abnormal acetabulum morphology ( J:46948 )

• the acetabular cavity in the hip is enlarged and irregularly shaped compared to in wild-type mice

abnormal sternocostal joint morphology ( J:46948 )

• in 13% of mice, only 6 ribs attach to the sternum comapred to 7 in wild-type mice

abnormal pubic symphysis morphology ( J:46948 )

• anterior protrusion of the pubic symphysis

craniofacial

abnormal basicranium morphology ( J:46948 )

• mice exhibit a loss of cartilage and bone in the base of the cranium compared to in wild-type mice

abnormal presphenoid bone morphology ( J:46948 )

• the ethmoid and presphenoid are fused unlike in wild-type mice

presphenoid bone hypoplasia ( J:46948 )

abnormal ethmoid bone morphology ( J:46948 )

• the ethmoid and presphenoid are fused unlike in wild-type mice

small cribriform plate ( J:46948 )

• the cribriform plate is reduced compared to in wild-type mice

abnormal vomer bone morphology ( J:46948 )

• reduced and displaced closer to the presphenoid

small vomer bone ( J:46948 )

limbs/digits/tail

abnormal shoulder joint morphology ( J:46948 )

• mice exhibit malformations in the shoulder joints

abnormal humerus morphology ( J:46948 )

• the humerus head is abnormal

abnormal hip joint morphology ( J:46948 )

• mice exhibit malformations in the hip joints

abnormal acetabulum morphology ( J:46948 )

• the acetabular cavity in the hip is enlarged and irregularly shaped compared to in wild-type mice

abnormal femur head morphology ( J:46948 )

• the femur head is abnormal

abnormal trochanter morphology ( J:46948 )

• the lesser trochanter is enlarged compared to in wild-type mice

Genotype
MGI:2166814

hm2

• Allelic Composition: Gsc^tm1Pgr/Gsc^tm1Pgr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

mortality/aging

neonatal lethality, complete penetrance ( J:29421 )

• mice die within 24 hours of birth with no milk in their stomachs

craniofacial

abnormal Meckel's cartilage morphology ( J:29421 )

• with aberrant muscle connections

small alisphenoid bone ( J:29421 )

• reduced and malformed

small pterygoid bone ( J:29421 )

• reduced and malformed

absent ethmoturbinates ( J:29421 )

abnormal mandible morphology ( J:29421 )

• the coronoid and angular processes are reduced

• however, the condilar process is normal

• mice exhibit a novel groove in the lower mandible along Meckel's cartilage unlike in wild-type mice

abnormal mandibular angle morphology ( J:29421 )

• the mandible angular processes are reduced

small mandibular coronoid process ( J:29421 )

• the coronoid processes are reduced

mandible hypoplasia ( J:29421 )

abnormal palatine bone morphology ( J:29421 )

palatine bone hypoplasia ( J:29421 )

• reduced and malformed

abnormal vomer bone morphology ( J:29421 )

• reduced and malformed

small vomer bone ( J:29421 )

small malleus manubrium ( J:29421 )

absent malleus processus brevis ( J:29421 )

abnormal nasal capsule morphology ( J:29421 )

abnormal masticatory muscle morphology ( J:29421 )

• jaw muscles, including the genioglosssus, geniohyoid, hypoglossus, mylohoid, and masseter muscles, exhibit underdeveloped alignment with disturbed cellular arrangements unlike in wild-type mice

abnormal intrinsic tongue muscle morphology ( J:29421 )

• the alignment of the anterior intrinsic tongue muscles is confused compared to in wild-type mice

abnormal nasal cavity morphology ( J:29421 )

abnormal nasal septum morphology ( J:29421 )

• the nasal septum fails to fuse with the secondary palate

• however, the secondary palate is normal

abnormal horizontal basal cell of olfactory epithelium morphology ( J:29421 )

• basal cell layers are aplastic

absent external auditory canal ( J:29421 , J:59750 )

hearing/vestibular/ear

small malleus manubrium ( J:29421 )

absent malleus processus brevis ( J:29421 )

absent external auditory canal ( J:29421 , J:59750 )

abnormal epitympanic recess morphology ( J:59750 )

• the epitympanic recess is not as clear as in wild-type mice

abnormal tympanic membrane morphology ( J:29421 )

absent tympanic membrane ( J:59750 )

absent tympanic ring ( J:29421 )

decreased tympanic ring size ( J:59750 )

• the tympanic bone is reduced and does not form the typical annular shape as in wild-type mice

muscle

abnormal masticatory muscle morphology ( J:29421 )

• jaw muscles, including the genioglosssus, geniohyoid, hypoglossus, mylohoid, and masseter muscles, exhibit underdeveloped alignment with disturbed cellular arrangements unlike in wild-type mice

abnormal intrinsic tongue muscle morphology ( J:29421 )

• the alignment of the anterior intrinsic tongue muscles is confused compared to in wild-type mice

growth/size/body

absent ethmoturbinates ( J:29421 )

palatine bone hypoplasia ( J:29421 )

• reduced and malformed

abnormal nasal capsule morphology ( J:29421 )

abnormal masticatory muscle morphology ( J:29421 )

• jaw muscles, including the genioglosssus, geniohyoid, hypoglossus, mylohoid, and masseter muscles, exhibit underdeveloped alignment with disturbed cellular arrangements unlike in wild-type mice

abnormal intrinsic tongue muscle morphology ( J:29421 )

• the alignment of the anterior intrinsic tongue muscles is confused compared to in wild-type mice

abnormal nasal cavity morphology ( J:29421 )

abnormal nasal septum morphology ( J:29421 )

• the nasal septum fails to fuse with the secondary palate

• however, the secondary palate is normal

abnormal horizontal basal cell of olfactory epithelium morphology ( J:29421 )

• basal cell layers are aplastic

absent external auditory canal ( J:29421 , J:59750 )

decreased birth body size ( J:29421 )

• mice are small at birth

respiratory system

absent ethmoturbinates ( J:29421 )

abnormal nasal capsule morphology ( J:29421 )

abnormal nasal cavity morphology ( J:29421 )

abnormal nasal septum morphology ( J:29421 )

• the nasal septum fails to fuse with the secondary palate

• however, the secondary palate is normal

abnormal horizontal basal cell of olfactory epithelium morphology ( J:29421 )

• basal cell layers are aplastic

skeleton

abnormal Meckel's cartilage morphology ( J:29421 )

• with aberrant muscle connections

small alisphenoid bone ( J:29421 )

• reduced and malformed

small pterygoid bone ( J:29421 )

• reduced and malformed

absent ethmoturbinates ( J:29421 )

abnormal mandible morphology ( J:29421 )

• the coronoid and angular processes are reduced

• however, the condilar process is normal

• mice exhibit a novel groove in the lower mandible along Meckel's cartilage unlike in wild-type mice

abnormal mandibular angle morphology ( J:29421 )

• the mandible angular processes are reduced

small mandibular coronoid process ( J:29421 )

• the coronoid processes are reduced

mandible hypoplasia ( J:29421 )

abnormal palatine bone morphology ( J:29421 )

palatine bone hypoplasia ( J:29421 )

• reduced and malformed

abnormal vomer bone morphology ( J:29421 )

• reduced and malformed

small vomer bone ( J:29421 )

small malleus manubrium ( J:29421 )

absent malleus processus brevis ( J:29421 )

abnormal nasal capsule morphology ( J:29421 )

taste/olfaction

abnormal horizontal basal cell of olfactory epithelium morphology ( J:29421 )

• basal cell layers are aplastic

behavior/neurological

absent gastric milk in neonates ( J:29421 )

digestive/alimentary system

palatine bone hypoplasia ( J:29421 )

• reduced and malformed

abnormal intrinsic tongue muscle morphology ( J:29421 )

• the alignment of the anterior intrinsic tongue muscles is confused compared to in wild-type mice

Genotype
MGI:3839559

cx3

• Allelic Composition: Gsc^tm1Pgr/Gsc^tm1Pgr; Msx1^tm1Rilm/Msx1^tm1Rilm
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

craniofacial

abnormal Meckel's cartilage morphology ( J:59750 )

absent malleus processus brevis ( J:59750 )

• the malleus lacks the short process

cleft palate ( J:59750 )

absent external auditory canal ( J:59750 )

digestive/alimentary system

cleft palate ( J:59750 )

hearing/vestibular/ear

absent malleus processus brevis ( J:59750 )

• the malleus lacks the short process

absent external auditory canal ( J:59750 )

abnormal tympanic cavity morphology ( J:59750 )

• the tympanic cavity is greatly reduced compared to in wild-type mice or either single homozygote

decreased tympanic ring size ( J:59750 )

• the tympanic bone develops as a short bar unlike in wild-type mice

skeleton

abnormal Meckel's cartilage morphology ( J:59750 )

absent malleus processus brevis ( J:59750 )

• the malleus lacks the short process

growth/size/body

cleft palate ( J:59750 )

absent external auditory canal ( J:59750 )