Phenotypes associated with this allele

• Allele Symbol: Ptprf^tm1Wjh
• Allele Name: targeted mutation 1, Wiljan JAJ Hendriks
• Allele ID: MGI:2158762
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ptprf^tm1Wjh/Ptprf^tm1Wjh	B6.129P2-Ptprf^tm1Wjh	MGI:3852508
hm2	Ptprf^tm1Wjh/Ptprf^tm1Wjh	involves: 129P2/OlaHsd	MGI:3852500
hm3	Ptprf^tm1Wjh/Ptprf^tm1Wjh	involves: 129P2/OlaHsd * C57BL/6	MGI:3852485
cx4	Ptprf^tm1Wjh/Ptprf^tm1Wjh Ptprs^tm1Mtr/Ptprs^tm1Mtr	B6.Cg-Ptprf^tm1Wjh Ptprs^tm1Mtr	MGI:3852634

Genotype
MGI:3852508

hm1

• Allelic Composition: Ptprf^tm1Wjh/Ptprf^tm1Wjh
• Genetic Background: B6.129P2-Ptprf^tm1Wjh

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

nervous system

abnormal retina ganglion cell morphology ( J:101070 )

• retinal ganglion cells cultured from eyes with len lesions have increased numbers compared to controls

• a smaller percentage of these ganglion cells have neurites compared to controls

impaired central nervous system regeneration ( J:128187 )

• mice receiving a unilateral entorhinal cortex lesion have reduced collateral sprouting in the surrounding neurons compared to control mice

• differences occur between 1 and 2 weeks after injury

• the total number and average size of forebrain cholinergic neurons two weeks after entorhinal cortex lesion is smaller than controls

abnormal peripheral nervous system regeneration ( J:128187 )

• the number of newly sprouting axons 4 days after sciatic nerve crushing is significantly less at 1, 3, and 5 mm distal from the crush site compared to controls

• the mean cross sectional area of these newly sprouted axons is also diminished compared to controls

delayed peripheral nervous system regeneration ( J:128187 )

• mice show delayed sensory peripheral nerve regeneration

• mean recovery of sensory function from crushed sciatic nerve is 19.2 days compared to 14.8 days in controls

• motor function recovery of sciatic nerve is not delayed

behavior/neurological

increased exploration in new environment ( J:95946 )

• mice display significantly more wall leaning, jumping, and less grooming during a 30 minute period in a new environment

• mice also leave their starting position in the new environment significantly faster than controls

abnormal spatial learning ( J:95946 )

• mice show impaired spatial learning in a morris water maze where they receive only two trails per day

• on day 10 and 16 of the testing, only 1 out of 8 mutant mice spend more than 30% of the time in the correct quadrant versus 5 of 6 control mice

hyperactivity ( J:95946 )

• mice have significantly more nocturnal activity with activity counts being almost double that of controls during much of the night

abnormal nest building behavior ( J:95946 )

• mice collect 5.2 g/day of cotton material for nest building over a 4 day test period compared to just 3.7 g/day mean for controls

vision/eye

abnormal retina ganglion cell morphology ( J:101070 )

• retinal ganglion cells cultured from eyes with len lesions have increased numbers compared to controls

• a smaller percentage of these ganglion cells have neurites compared to controls

Genotype
MGI:3852500

hm2

• Allelic Composition: Ptprf^tm1Wjh/Ptprf^tm1Wjh
• Genetic Background: involves: 129P2/OlaHsd

immune system

immune system phenotype ( J:119456 )

N • cell development and function are normal in these mice

Genotype
MGI:3852485

hm3

• Allelic Composition: Ptprf^tm1Wjh/Ptprf^tm1Wjh
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

endocrine/exocrine glands

abnormal milk ejection ( J:42273 )

♀ • some homozygote mothers are unable to secrete sufficient amounts of milk to support pups

♀ • mammary epithelium produces large secretory vesicles and lipid droplets but an impaired terminal differentiation of alveoli prevents delivery

♀ • Background Sensitivity: penetrance of this phenoptye is 100% after two backcrosses to C57BL/6

abnormal involution of the mammary gland ( J:42273 )

♀ • involution of mammary glands starts shortly after birth

abnormal mammary gland alveolus morphology ( J:42273 )

♀ • impaired terminal differentiation of alveoli prevents delivery of milk

♀ • at parturition, the number and size of alveoli are reduced and local interstitial fibrosis and congestion of milk occurs

♀ • this state resembles involution that occurs to wild-type mothers about two days after weaning of pups

♀ • more complete involution is observed in mothers with an extreme phenotype

♀ • Background Sensitivity: penetrance of this phenoptye is 100% after two backcrosses to C57BL/6

integument

abnormal milk ejection ( J:42273 )

♀ • some homozygote mothers are unable to secrete sufficient amounts of milk to support pups

♀ • mammary epithelium produces large secretory vesicles and lipid droplets but an impaired terminal differentiation of alveoli prevents delivery

♀ • Background Sensitivity: penetrance of this phenoptye is 100% after two backcrosses to C57BL/6

abnormal involution of the mammary gland ( J:42273 )

♀ • involution of mammary glands starts shortly after birth

abnormal mammary gland alveolus morphology ( J:42273 )

♀ • impaired terminal differentiation of alveoli prevents delivery of milk

♀ • at parturition, the number and size of alveoli are reduced and local interstitial fibrosis and congestion of milk occurs

♀ • this state resembles involution that occurs to wild-type mothers about two days after weaning of pups

♀ • more complete involution is observed in mothers with an extreme phenotype

♀ • Background Sensitivity: penetrance of this phenoptye is 100% after two backcrosses to C57BL/6

behavior/neurological

abnormal milk ejection ( J:42273 )

♀ • some homozygote mothers are unable to secrete sufficient amounts of milk to support pups

♀ • mammary epithelium produces large secretory vesicles and lipid droplets but an impaired terminal differentiation of alveoli prevents delivery

♀ • Background Sensitivity: penetrance of this phenoptye is 100% after two backcrosses to C57BL/6

Genotype
MGI:3852634

cx4

• 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