Phenotypes associated with this allele

• Allele Symbol: Ptprs^tm1Mtr
• Allele Name: targeted mutation 1, Michel L Tremblay
• Allele ID: MGI:2158757
• Summary: 9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ptprs^tm1Mtr/Ptprs^tm1Mtr	B6.Cg-Ptprs^tm1Mtr	MGI:3852633
hm2	Ptprs^tm1Mtr/Ptprs^tm1Mtr	involves: 129/Sv * BALB/c	MGI:3622901
hm3	Ptprs^tm1Mtr/Ptprs^tm1Mtr	involves: BALB/c	MGI:3622904
hm4	Ptprs^tm1Mtr/Ptprs^tm1Mtr	Not Specified	MGI:5462106
cx5	Ptprd^tm1Yiw/Ptprd^tm1Yiw Ptprs^tm1Mtr/Ptprs^tm1Mtr	B6.Cg-Ptprd^tm1Yiw Ptprs^tm1Mtr	MGI:4839393
cx6	Ptprd^tm1Yiw/Ptprd^tm1Yiw Ptprs^tm1Mtr/Ptprs^+	B6.Cg-Ptprd^tm1Yiw Ptprs^tm1Mtr	MGI:4839394
cx7	Ptprd^tm1Yiw/Ptprd^+ Ptprs^tm1Mtr/Ptprs^tm1Mtr	B6.Cg-Ptprd^tm1Yiw Ptprs^tm1Mtr	MGI:4839395
cx8	Ptprf^tm1Wjh/Ptprf^tm1Wjh Ptprs^tm1Mtr/Ptprs^tm1Mtr	B6.Cg-Ptprf^tm1Wjh Ptprs^tm1Mtr	MGI:3852634
cx9	Ptprs^tm1Mtr/Ptprs^tm1Mtr Rtn4r^tm1.1Pado/Rtn4r^tm1.1Pado Rtn4rl1^tm1.1Rojg/Rtn4rl1^tm1.1Rojg	involves: 129S/SvEvBrd * 129S4/SvJae	MGI:5462104

Genotype
MGI:3852633

hm1

• Allelic Composition: Ptprs^tm1Mtr/Ptprs^tm1Mtr
• Genetic Background: B6.Cg-Ptprs^tm1Mtr

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

mortality/aging

premature death ( J:149756 )

• about two-thirds of the mice die before 4 weeks of age

Genotype
MGI:3622901

hm2

• Allelic Composition: Ptprs^tm1Mtr/Ptprs^tm1Mtr
• Genetic Background: involves: 129/Sv * BALB/c

mortality/aging

neonatal lethality, incomplete penetrance ( J:53434 )

• 41% of null animals born to homozygous parents die in the first day of life; from heterozygous crosses, nulls are born at Mendelian ratios

growth/size/body

decreased body weight ( J:53434 )

• at birth, weight of homozygotes is 5-15% lower than wild-type in heterozygous matings

postnatal growth retardation ( J:53434 )

• growth retardation is apparent at 3 weeks of age with homozygotes being 50-55% of normal weight in heterozygous matings

endocrine/exocrine glands

small pituitary gland ( J:53434 )

• E13-14 embryos display a moderate reduction in size of the pituitary gland; in newborns, the anterior and posterior lobes are reduced in size with the a deep open lumen being retained by the posterior lobe

nervous system

small pituitary gland ( J:53434 )

• E13-14 embryos display a moderate reduction in size of the pituitary gland; in newborns, the anterior and posterior lobes are reduced in size with the a deep open lumen being retained by the posterior lobe

decreased brain size ( J:53434 )

• brains of adult mutants are smaller than wild-type (0.41g versus 0.49g respectively)

small olfactory bulb ( J:53433 )

• olfactory bulb is reduced in size in mutants

reproductive system

absent estrus ( J:53434 )

♀ • adult mutant females are rarely in oestrus

absent estrous cycle ( J:53434 )

♀

decreased litter size ( J:53434 )

• average litter per breeding pair per month is 5 times smaller than wild-type

taste/olfaction

impaired olfaction ( J:53434 )

• mutants are hyposmic and less sensitive to repellent odors

homeostasis/metabolism

decreased circulating insulin-like growth factor I level ( J:53434 )

• null mice have 25-40% of wild-type levels of IGF-1

Genotype
MGI:3622904

hm3

• Allelic Composition: Ptprs^tm1Mtr/Ptprs^tm1Mtr
• Genetic Background: involves: BALB/c

nervous system

abnormal axon extension ( J:85382 )

• in mutants, significantly more neurons from null animals extend tau-positive neurites that are longer than 30 microns than do wild-type axons

enhanced central nervous system regeneration ( J:85382 )

• injured facial axons in mutants regenerate at a faster rate than in wild-type; functional recovery begins about 1 day earlier in mutants and full recovery occurs 1 day earlier than in wild-type animals

cellular

abnormal axon extension ( J:85382 )

• in mutants, significantly more neurons from null animals extend tau-positive neurites that are longer than 30 microns than do wild-type axons

Genotype
MGI:5462106

hm4

• Allelic Composition: Ptprs^tm1Mtr/Ptprs^tm1Mtr
• Genetic Background: Not Specified

nervous system

abnormal neuron physiology ( J:191258 )

• strong inhibition of neuron growth when challenged with high concentrations of chondroitin sulfate proteoglycans

Genotype
MGI:4839393

cx5

• Allelic Composition: Ptprd^tm1Yiw/Ptprd^tm1Yiw; Ptprs^tm1Mtr/Ptprs^tm1Mtr
• Genetic Background: B6.Cg-Ptprd^tm1Yiw Ptprs^tm1Mtr

mortality/aging

neonatal lethality, complete penetrance ( J:109122 )

• mutants are viable to late embryogenesis E18.5, born but never breathe

skeleton

kyphosis ( J:109122 )

axial skeleton hypoplasia ( J:109122 )

• E18.5 skeletal muscle fibers are smaller in diameter, with their nuclei centrally localized along the fiber

behavior/neurological

carpoptosis ( J:109122 )

respiratory system

abnormal pulmonary alveolus morphology ( J:109122 )

• alveoli of E18.5 are tightly compressed

adipose tissue

increased subcutaneous adipose tissue amount ( J:109122 )

• subcutaneous tissues are enlarged

abnormal brown adipose tissue morphology ( J:109122 )

• the compartmentalization of brown adipose tissue is less obvious

muscle

centrally nucleated skeletal muscle fibers ( J:109122 )

• in E18.5 skeletal muscle fibers

thin diaphragm muscle ( J:109122 )

• at E16.5 the mean thickness of the diaphragm is thinner

hypaxial muscle hypoplasia ( J:109122 )

• a reduction in the mass of dorsal axial skeletal muscles and limb muscles

nervous system

abnormal motor neuron morphology ( J:109122 )

• only a few morphologically abnormal motoneurons that exhibit a smaller cytoplasm with Nissl bodies and an indistinct nucleolus, are found

decreased motor neuron number ( J:109122 )

• a decrease occurs late in embryogenesis between E13 and E18.5, during motoneuron axon extension

abnormal phrenic nerve morphology ( J:109122 )

• at E13.5 although the phrenic nerve appears to reach the appropriate initial location on the diaphragm, the two main sternocostal branches that normally defasciculate from the main nerve are retracted

• at 15.5 and E18.5 complete absence of sternocostal branches

integument

increased subcutaneous adipose tissue amount ( J:109122 )

• subcutaneous tissues are enlarged

underdeveloped hair follicles ( J:109122 )

• hair follicles are not fully developed at E18.5

thin dermal layer ( J:109122 )

translucent skin ( J:109122 )

• from E15

Genotype
MGI:4839394

cx6

• Allelic Composition: Ptprd^tm1Yiw/Ptprd^tm1Yiw; Ptprs^tm1Mtr/Ptprs⁺
• Genetic Background: B6.Cg-Ptprd^tm1Yiw Ptprs^tm1Mtr

nervous system

abnormal phrenic nerve morphology ( J:109122 )

• capillaceous nerves are seldom observed to defasciculate from the major sternocostal branches

Genotype
MGI:4839395

cx7

• Allelic Composition: Ptprd^tm1Yiw/Ptprd⁺; Ptprs^tm1Mtr/Ptprs^tm1Mtr
• Genetic Background: B6.Cg-Ptprd^tm1Yiw Ptprs^tm1Mtr

nervous system

decreased motor neuron number ( J:109122 )

• a modest reduction of the number of motoneurons

abnormal phrenic nerve morphology ( J:109122 )

• capillaceous nerves are seldom observed to defasciculate from the major sternocostal branches

Genotype
MGI:3852634

cx8

• Allelic Composition: Ptprf^tm1Wjh/Ptprf^tm1Wjh; Ptprs^tm1Mtr/Ptprs^tm1Mtr
• Genetic Background: B6.Cg-Ptprf^tm1Wjh Ptprs^tm1Mtr

Craniofacial anomalies in Ptprf^tm1Wjh/Ptprf^tm1Wjh Ptprs^tm1Mtr/Ptprs^tm1Mtr double-mutant embryos

mortality/aging

premature death ( J:149756 )

• all mice are dead prior to 4 weeks of age

renal/urinary system

duplex kidney ( J:149756 )

• 13% of E18.5 embryos have duplicated kidneys and ureters

abnormal ureter morphology ( J:149756 )

• some embryos have abnormal winding of the ureters

abnormal ureter development ( J:149756 )

• common nephric duct is still present in E13.5 embryos while being eliminated in control embryos

• the common nephric duct in E12.5 embryos has much lower rates of apoptosis especially in the cadual segment where 51% of the wil-type cells are apoptotic versus 6% in the mutant embryos

dilated ureter ( J:149756 )

• many E18.5 embryos without severe kidney malformations have dilated ureters

double ureter ( J:149756 )

• 13% of E18.5 embryos have duplicated kidneys and ureters

hydroureter ( J:149756 )

• 52% of E18.5 embryos have severe uni- or bilateral hydroureters

ureterocele ( J:149756 )

• in severe hydroureter/hydronephrosis cases, a ureterocele is seen within the bladder, ipsilateral to the enlarged ureter and kidneys

craniofacial

abnormal Meckel's cartilage morphology ( J:199299 )

• at E14.5, Meckel's cartilage is dysmorphic with foreshortened and mis-patterned middle processes that are abnormally fused at the distal tip

• however, the proximal arms of Meckels cartilage articulate normally with the middle ear capsule at E14.5, and proximal Meckels cartilage is specified normally in the mandibular arch at E12.5

abnormal neurocranium morphology ( J:199299 )

• defects in calvaria development at E18.5

abnormal basisphenoid bone morphology ( J:199299 )

• dysmorphic basiosphenoid at E18.5

abnormal frontal bone morphology ( J:199299 )

abnormal interparietal bone morphology ( J:199299 )

abnormal parietal bone morphology ( J:199299 )

absent pterygoid process ( J:199299 )

• absent pterygoid processes at E18.5

abnormal mandible morphology ( J:199299 )

• defects in mandibular development, with a severely dysmorphic dentary bone at E18.5

• mandibular bone deposition occurs medially, leading to premature fusion of the dentary bones at E14.5

• aberrant midline expression of both Col2a1 (chondrocyte marker) and of Runx2 (osteoblast marker) in the medial mandibular arch at E12.5

• significant decrease of cell proliferation in the proximal mandibular arch at E12.5, with relatively normal cell proliferation in the distal mandibular arch

• however, the rostral processes (angular, coronoid, condylar) are present at E18.5

abnormal mandibular symphysis morphology ( J:199299 )

• at E18.5, the distal mandibular symphysis is abnormally fused at the midline

small mandible ( J:199299 )

• mandibles are narrower and shortened, with abnormal bone deposition between the dentary bones at E18.5

• lower jaw is already undersized (shortened, narrowed) at E14.5

mandible hypoplasia ( J:199299 )

short mandible ( J:199299 )

• lower jaw is already shortened at E14.5

abnormal premaxilla morphology ( J:199299 )

• shortened cartilage anlagen of the premaxilla at E14.5

short premaxilla ( J:199299 )

• truncation of the premaxilla at E18.5

• however, the maxilla appears grossly normal

micrognathia ( J:149756 , J:199299 )

• 45% of E18.5 embyros have micrognathia (J:149756)

• 39% of embryos exhibit micrognathia (J:199299)

• all micrognathic embryos also exhibit macroglossia/glossoptosis and palatal defects, including cleft palate and palatal bone abnormalities at E16.5 and E18.5 (J:199299)

absent palatine bone ( J:199299 )

• missing palatine bones at E18.5

abnormal palate bone morphology ( J:199299 )

• all micrognathic embryos also exhibit palatal bone abnormalities at E16.5 and E18.5

abnormal nasal capsule morphology ( J:199299 )

• shortened cartilage anlagen of the nasal capsule at E14.5

absent nasal capsule ( J:199299 )

• absence of the nasal capsule at E18.5

abnormal palatal mesenchymal cell proliferation ( J:199299 )

• ~50% reduction in cell proliferation of palatal shelf tissue at E12.5

palatal shelves fail to meet at midline ( J:149756 )

• palatal shelves extend to the midline but do not touch and fuse

abnormal first pharyngeal arch morphology ( J:199299 )

• ~70% reduction in first pharyngeal arch cell proliferation at E10.5

• however, neural crest migration and survival is normal in the first pharyngeal arch at E9.5

cleft secondary palate ( J:149756 , J:199299 )

• cleft palate is noted in E18.5 embryos (J:149756)

• ~50% of the embryos show cleft palate at E18.5 (J:199299)

• all micrognathic embryos also exhibit cleft palate (J:199299)

• embryos without micrognathia have normal palates (J:199299)

abnormal tongue morphology ( J:199299 )

• at E18.5, the tongue is disorganized, less differentiated, and smaller

• ~50% reduction of cell proliferation in the developing tongue at E12.5

• embryos without micrognathia have normal tongues

glossoptosis ( J:199299 )

• a disorganized tongue is located further back in the oral cavity at E18.5, accompanied by blockage of the oral cavity

• all micrognathic embryos also exhibit glossoptosis

absent tongue ( J:199299 )

• embryos lack a tongue at E14.5

decreased tongue size ( J:199299 )

• microglossia at E18.5

• all micrognathic embryos also exhibit microglossia at E16.5 and E18.5

oral atresia ( J:199299 )

• blockage of the oral cavity at E18.5 with a marked reduction in airway space

nervous system

exencephaly ( J:149756 )

• 23% of E18.5 embryos have exencephaly

embryo

abnormal first pharyngeal arch morphology ( J:199299 )

• ~70% reduction in first pharyngeal arch cell proliferation at E10.5

• however, neural crest migration and survival is normal in the first pharyngeal arch at E9.5

respiratory system

abnormal nasal capsule morphology ( J:199299 )

• shortened cartilage anlagen of the nasal capsule at E14.5

absent nasal capsule ( J:199299 )

• absence of the nasal capsule at E18.5

skeleton

skeleton phenotype ( J:199299 )

N • no defects in appendicular and axial skeletal development at E18.5

N • normal bone and cartilage development of the body and middle ear capsule at E14.5

abnormal Meckel's cartilage morphology ( J:199299 )

• at E14.5, Meckel's cartilage is dysmorphic with foreshortened and mis-patterned middle processes that are abnormally fused at the distal tip

• however, the proximal arms of Meckels cartilage articulate normally with the middle ear capsule at E14.5, and proximal Meckels cartilage is specified normally in the mandibular arch at E12.5

abnormal neurocranium morphology ( J:199299 )

• defects in calvaria development at E18.5

abnormal basisphenoid bone morphology ( J:199299 )

• dysmorphic basiosphenoid at E18.5

abnormal frontal bone morphology ( J:199299 )

abnormal interparietal bone morphology ( J:199299 )

abnormal parietal bone morphology ( J:199299 )

absent pterygoid process ( J:199299 )

• absent pterygoid processes at E18.5

abnormal mandible morphology ( J:199299 )

• defects in mandibular development, with a severely dysmorphic dentary bone at E18.5

• mandibular bone deposition occurs medially, leading to premature fusion of the dentary bones at E14.5

• aberrant midline expression of both Col2a1 (chondrocyte marker) and of Runx2 (osteoblast marker) in the medial mandibular arch at E12.5

• significant decrease of cell proliferation in the proximal mandibular arch at E12.5, with relatively normal cell proliferation in the distal mandibular arch

• however, the rostral processes (angular, coronoid, condylar) are present at E18.5

abnormal mandibular symphysis morphology ( J:199299 )

• at E18.5, the distal mandibular symphysis is abnormally fused at the midline

small mandible ( J:199299 )

• mandibles are narrower and shortened, with abnormal bone deposition between the dentary bones at E18.5

• lower jaw is already undersized (shortened, narrowed) at E14.5

mandible hypoplasia ( J:199299 )

short mandible ( J:199299 )

• lower jaw is already shortened at E14.5

abnormal premaxilla morphology ( J:199299 )

• shortened cartilage anlagen of the premaxilla at E14.5

short premaxilla ( J:199299 )

• truncation of the premaxilla at E18.5

• however, the maxilla appears grossly normal

micrognathia ( J:149756 , J:199299 )

• 45% of E18.5 embyros have micrognathia (J:149756)

• 39% of embryos exhibit micrognathia (J:199299)

• all micrognathic embryos also exhibit macroglossia/glossoptosis and palatal defects, including cleft palate and palatal bone abnormalities at E16.5 and E18.5 (J:199299)

absent palatine bone ( J:199299 )

• missing palatine bones at E18.5

abnormal palate bone morphology ( J:199299 )

• all micrognathic embryos also exhibit palatal bone abnormalities at E16.5 and E18.5

abnormal nasal capsule morphology ( J:199299 )

• shortened cartilage anlagen of the nasal capsule at E14.5

absent nasal capsule ( J:199299 )

• absence of the nasal capsule at E18.5

vision/eye

persistent hyaloid artery ( J:149756 )

• hyaloids arteries are observed in E18.5 embryos

eyelids open at birth ( J:149756 )

• 23% of E18.5 embryos have failure in eyelid closure

abnormal retina neuronal layer morphology ( J:149756 )

• neuroretinal structures are disorganized in E18.5 embryos

disorganized retina inner nuclear layer ( J:149756 )

• the inner nuclear layer of E18.5 embryos is hyperplastic

growth/size/body

abnormal palate bone morphology ( J:199299 )

• all micrognathic embryos also exhibit palatal bone abnormalities at E16.5 and E18.5

abnormal nasal capsule morphology ( J:199299 )

• shortened cartilage anlagen of the nasal capsule at E14.5

absent nasal capsule ( J:199299 )

• absence of the nasal capsule at E18.5

abnormal palatal mesenchymal cell proliferation ( J:199299 )

• ~50% reduction in cell proliferation of palatal shelf tissue at E12.5

palatal shelves fail to meet at midline ( J:149756 )

• palatal shelves extend to the midline but do not touch and fuse

cleft secondary palate ( J:149756 , J:199299 )

• cleft palate is noted in E18.5 embryos (J:149756)

• ~50% of the embryos show cleft palate at E18.5 (J:199299)

• all micrognathic embryos also exhibit cleft palate (J:199299)

• embryos without micrognathia have normal palates (J:199299)

abnormal tongue morphology ( J:199299 )

• at E18.5, the tongue is disorganized, less differentiated, and smaller

• ~50% reduction of cell proliferation in the developing tongue at E12.5

• embryos without micrognathia have normal tongues

glossoptosis ( J:199299 )

• a disorganized tongue is located further back in the oral cavity at E18.5, accompanied by blockage of the oral cavity

• all micrognathic embryos also exhibit glossoptosis

absent tongue ( J:199299 )

• embryos lack a tongue at E14.5

decreased tongue size ( J:199299 )

• microglossia at E18.5

• all micrognathic embryos also exhibit microglossia at E16.5 and E18.5

oral atresia ( J:199299 )

• blockage of the oral cavity at E18.5 with a marked reduction in airway space

digestive/alimentary system

abnormal palate bone morphology ( J:199299 )

• all micrognathic embryos also exhibit palatal bone abnormalities at E16.5 and E18.5

abnormal palatal mesenchymal cell proliferation ( J:199299 )

• ~50% reduction in cell proliferation of palatal shelf tissue at E12.5

palatal shelves fail to meet at midline ( J:149756 )

• palatal shelves extend to the midline but do not touch and fuse

cleft secondary palate ( J:149756 , J:199299 )

• cleft palate is noted in E18.5 embryos (J:149756)

• ~50% of the embryos show cleft palate at E18.5 (J:199299)

• all micrognathic embryos also exhibit cleft palate (J:199299)

• embryos without micrognathia have normal palates (J:199299)

abnormal tongue morphology ( J:199299 )

• at E18.5, the tongue is disorganized, less differentiated, and smaller

• ~50% reduction of cell proliferation in the developing tongue at E12.5

• embryos without micrognathia have normal tongues

glossoptosis ( J:199299 )

• a disorganized tongue is located further back in the oral cavity at E18.5, accompanied by blockage of the oral cavity

• all micrognathic embryos also exhibit glossoptosis

absent tongue ( J:199299 )

• embryos lack a tongue at E14.5

decreased tongue size ( J:199299 )

• microglossia at E18.5

• all micrognathic embryos also exhibit microglossia at E16.5 and E18.5

cardiovascular system

persistent hyaloid artery ( J:149756 )

• hyaloids arteries are observed in E18.5 embryos

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Weissenbacher-Zweymuller syndrome		DOID:4258	OMIM:261800	J:199299

Genotype
MGI:5462104

cx9

• Allelic Composition: Ptprs^tm1Mtr/Ptprs^tm1Mtr; Rtn4r^tm1.1Pado/Rtn4r^tm1.1Pado; Rtn4rl1^tm1.1Rojg/Rtn4rl1^tm1.1Rojg
• Genetic Background: involves: 129S/SvEvBrd * 129S4/SvJae

nervous system

enhanced central nervous system regeneration ( J:191258 )

• considerably improved recovery of retinal ganglion cell axons from retro-orbital optic nerve crush