Phenotypes associated with this allele

• Allele Symbol: Ptprd^tm1Yiw
• Allele Name: targeted mutation 1, Yoichiro Iwakura
• Allele ID: MGI:2158795
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ptprd^tm1Yiw/Ptprd^tm1Yiw	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3056784
cx2	Ptprd^tm1Yiw/Ptprd^tm1Yiw Ptprs^tm1Mtr/Ptprs^tm1Mtr	B6.Cg-Ptprd^tm1Yiw Ptprs^tm1Mtr	MGI:4839393
cx3	Ptprd^tm1Yiw/Ptprd^tm1Yiw Ptprs^tm1Mtr/Ptprs^+	B6.Cg-Ptprd^tm1Yiw Ptprs^tm1Mtr	MGI:4839394
cx4	Ptprd^tm1Yiw/Ptprd^+ Ptprs^tm1Mtr/Ptprs^tm1Mtr	B6.Cg-Ptprd^tm1Yiw Ptprs^tm1Mtr	MGI:4839395

Genotype
MGI:3056784

hm1

• Allelic Composition: Ptprd^tm1Yiw/Ptprd^tm1Yiw
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

mortality/aging

premature death ( J:63046 )

• 60% die by 35 days, unless food relocated to floor of cage

behavior/neurological

abnormal spatial learning ( J:63046 )

• impaired ability to find platform in Morris water maze

• impaired ability in reinforced alternation task (T maze)

• impaired ability in radial arm maze

abnormal eating behavior ( J:63046 )

• difficulty in obtaining food from elevated position

impaired swimming ( J:63046 )

• body rolls while swimming

growth/size/body

decreased body weight ( J:63046 )

nervous system

enhanced long-term potentiation ( J:63046 )

• in CA3 and CA1 pyramidal neurons following tetanic stimulation

enhanced paired-pulse facilitation ( J:63046 )

• in hippocampal CA1 synapses

• threshold of the pulse interval causing facilitation is prolonged

Genotype
MGI:4839393

cx2

• 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

cx3

• 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

cx4

• 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