Phenotypes associated with this allele

• Allele Symbol: Tg(Dhh-cre)1Mejr
• Allele Name: transgene insertion 1, Dies Meijer
• Allele ID: MGI:4359600
• Summary: 29 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Gata1^tm1Phi/Y Tg(Dhh-cre)1Mejr/0	involves: 129P2/OlaHsd * C57BL/6 * FVB	MGI:2677349
cn2	Erbb3^tm3Cbm/Erbb3^tm3Cbm Gt(ROSA)26Sor^tm8(Map2k1*,EGFP)Rsky/? Tg(Dhh-cre)1Mejr/0	involves: 129P2/OlaHsd * C57BL/6 * FVB/N	MGI:5588163
cn3	Gt(ROSA)26Sor^tm8(Map2k1*,EGFP)Rsky/? Ptpn11^tm1.1Wbm/Ptpn11^tm1.1Wbm Tg(Dhh-cre)1Mejr/0	involves: 129P2/OlaHsd * C57BL/6 * FVB/N	MGI:5588150
cn4	Gt(ROSA)26Sor^tm7(Pik3ca*,EGFP)Rsky/? Ptpn11^tm1.1Wbm/Ptpn11^tm1.1Wbm Tg(Dhh-cre)1Mejr/0	involves: 129P2/OlaHsd * C57BL/6 * FVB/N	MGI:5588151
cn5	Erbb3^tm3Cbm/Erbb3^tm3Cbm Gt(ROSA)26Sor^tm7(Pik3ca*,EGFP)Rsky/? Tg(Dhh-cre)1Mejr/0	involves: 129P2/OlaHsd * C57BL/6 * FVB/N	MGI:5588164
cn6	Sox10^tm7.1(Sox10)Weg/Sox10^tm7.1(Sox10)Weg Tg(Dhh-cre)1Mejr/0	involves: 129P2/OlaHsd * C57BL/6 * FVB/N * SJL	MGI:4820434
cn7	Pou3f1^tm1Mejr/Pou3f1^tm2.1Mejr Pou3f2^tm1Mejr/Pou3f2^tm1Mejr Tg(Dhh-cre)1Mejr/0	involves: 129P2/OlaHsd * FVB/N	MGI:4359761
cn8	Pou3f2^tm1Mejr/Pou3f2^tm1Mejr Tg(Dhh-cre)1Mejr/0	involves: 129P2/OlaHsd * FVB/N	MGI:4359759
cn9	Ptpn11^tm1.1Wbm/Ptpn11^tm1.1Wbm Tg(Dhh-cre)1Mejr/0	involves: 129P2/OlaHsd * FVB/N	MGI:5588149
cn10	Erbb3^tm3Cbm/Erbb3^tm3Cbm Tg(Dhh-cre)1Mejr/0	involves: 129P2/OlaHsd * FVB/N	MGI:5588162
cn11	Dmrtc2^tm1.1Zark/Dmrtc2^tm1.1Zark Tg(Dhh-cre)1Mejr/0	involves: 129S1/Sv * C57BL/6	MGI:3711737
cn12	Pten^tm2.1Ppp/Pten^tm2.1Ppp Tg(Cnp-EGFR)10Nrat/0 Tg(Dhh-cre)1Mejr/0	involves: 129S1/Sv * C57BL/6 * FVB/N * SJL	MGI:5485414
cn13	Pten^tm2.1Ppp/Pten^+ Tg(Cnp-EGFR)10Nrat/0 Tg(Dhh-cre)1Mejr/0	involves: 129S1/Sv * C57BL/6 * FVB/N * SJL	MGI:5485415
cn14	Pten^tm2.1Ppp/Pten^tm2.1Ppp Tg(Dhh-cre)1Mejr/0	involves: 129S1/Sv * C57BL/6 * FVB/N * SJL	MGI:5485416
cn15	Septin9^tm2.1Emfu/Septin9^tm2.1Emfu Tg(Dhh-cre)1Mejr/0	involves: 129S1/Sv * FVB/N	MGI:7523323
cn16	Cmtm6^tm1c(EUCOMM)Wtsi/Cmtm6^tm1c(EUCOMM)Wtsi Mag^tm1Mtg/Mag^tm1Mtg Tg(Dhh-cre)1Mejr/0	involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6N * FVB/N	MGI:6511254
cn17	Nf1^tm1.1Kest/Nf1^tm1c(KOMP)Wtsi Tg(Dhh-cre)1Mejr/0	involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6N * C57BL/6NTac * FVB/N	MGI:6275135
cn18	Nf1^tm1c(KOMP)Wtsi/Nf1^tm1c(KOMP)Wtsi Tg(Dhh-cre)1Mejr/0	involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6N * FVB/N	MGI:6275138
cn19	Septin2^tm1c(EUCOMM)Wtsi/Septin2^tm1c(EUCOMM)Wtsi Tg(Dhh-cre)1Mejr/0	involves: 129S4/SvJaeSor * C57BL/6N * FVB/N	MGI:7523329
cn20	Cmtm6^tm1c(EUCOMM)Wtsi/Cmtm6^tm1c(EUCOMM)Wtsi Tg(Dhh-cre)1Mejr/0	involves: 129S4/SvJaeSor * C57BL/6N * FVB/N	MGI:6511251
cn21	Adam22^tm1.1Mejr/Adam22^tm1.1Mejr Tg(Dhh-cre)1Mejr/0	involves: 129S4/SvJaeSor * FVB/N	MGI:4441315
cn22	Lgi4^tm1.1Jrb/Lgi4^tm1.1Jrb Tg(Dhh-cre)1Mejr/0	involves: 129S4/SvJaeSor * FVB/N	MGI:4441321
cn23	Slc12a6^tm2.1Dlp/Slc12a6^tm2.1Dlp Tg(Dhh-cre)1Mejr/0	involves: 129S6/SvEvTac * C57BL/6J * FVB/N	MGI:5754619
cn24	Cadm4^tm1.1Pele/Cadm4^tm1.1Pele Tg(Dhh-cre)1Mejr/0	involves: 129S/SvEv * 129S4/SvJaeSor * FVB/N	MGI:5528812
cn25	Dmrt1^tm1Zark/Dmrt1^tm1.1Zark Tg(Dhh-cre)1Mejr/0	involves: 129/Sv * C57BL/6	MGI:3851610
cn26	Gt(ROSA)26Sor^tm8(Map2k1*,EGFP)Rsky/? Tg(Dhh-cre)1Mejr/0	involves: C57BL/6 * FVB/N	MGI:5588152
cn27	Cemip^tm1.1Tac/Cemip^tm1.1Tac Tg(Dhh-cre)1Mejr/0	involves: C57BL/6NTac * FVB/N	MGI:6117715
cn28	Adam23^tm1.1Mejr/Adam23^tm1.1Mejr Tg(Dhh-cre)1Mejr/0	involves: FVB/N	MGI:7444421
cn29	Fgd4^tm1Ics/Fgd4^tm1Ics Tg(Dhh-cre)1Mejr/0	involves: FVB/N	MGI:5460880

Genotype
MGI:2677349

cn1

• Allelic Composition: Gata1^tm1Phi/Y; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

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

normal phenotype

no abnormal phenotype detected ( J:85598 )

♂ • these mice were fertile and exhibited normal testicular development and spermatogenesis

Genotype
MGI:5588163

cn2

• Allelic Composition: Erbb3^tm3Cbm/Erbb3^tm3Cbm; Gt(ROSA)26Sor^{tm8(Map2k1*,EGFP)Rsky}/?; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

nervous system

decreased myelin sheath thickness ( J:207470 )

• at P15, the myelin of peripheral axons is thinner but axons are hypermyelinated at P90

abnormal myelination ( J:207470 )

• at P15 and P90, 36.7% and 17.8% of axons with diameters >1 um are nonmyelinated, respectively compared to 3.5% and 0.8% in controls

hypermyelination ( J:207470 )

• axons are hypermyelinated at P90

• however, mice show rescue of Schwann cell development and Schwan cells are able to myelinate

Genotype
MGI:5588150

cn3

• Allelic Composition: Gt(ROSA)26Sor^{tm8(Map2k1*,EGFP)Rsky}/?; Ptpn11^tm1.1Wbm/Ptpn11^tm1.1Wbm; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

nervous system

hypermyelination ( J:207470 )

• axons of peripheral nerves are hypermyelinated at P90

• however, mice show normal numbers of Schwann cells

Genotype
MGI:5588151

cn4

• Allelic Composition: Gt(ROSA)26Sor^{tm7(Pik3ca*,EGFP)Rsky}/?; Ptpn11^tm1.1Wbm/Ptpn11^tm1.1Wbm; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

nervous system

abnormal myelination ( J:207470 )

• mice show myelination defects similar to single conditional Ptpn11^tm1.1Wbm homozygotes

Genotype
MGI:5588164

cn5

• Allelic Composition: Erbb3^tm3Cbm/Erbb3^tm3Cbm; Gt(ROSA)26Sor^{tm7(Pik3ca*,EGFP)Rsky}/?; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

nervous system

abnormal myelination ( J:207470 )

• myelination is not seen

Genotype
MGI:4820434

cn6

• Allelic Composition: Sox10^{tm7.1(Sox10)Weg}/Sox10^{tm7.1(Sox10)Weg}; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * SJL

mortality/aging

premature death ( J:162692 )

• most mice die by 5 weeks of age

• all mice die by 7 weeks of age

nervous system

increased neuron apoptosis ( J:162692 )

• increased in the sciatic nerve

abnormal neuron proliferation ( J:162692 )

• increased in the sciatic nerve

abnormal Schwann cell morphology ( J:162692 )

• as determined by marker expression, Schwann cells do not progress beyond the immature stage unlike wild-type cells

• between P8 and P32, the number of Schwann cells in the sciatic nerve is increased slightly compared to in wild-type mice

• Schwann cells contain high amounts of rough endoplasmic reticulum compared to in wild-type mice

abnormal sciatic nerve morphology ( J:162692 )

• sciatic nerves are translucent, less well defined, lacks myelination, and lacks the characteristic banded pattern compared with sciatic nerves from wild-type mice

• the number of cells in the sciatic nerve is increased compared to in wild-type mice

• between P8 and P32, the number of Schwann cells in the sciatic nerve is increased slightly compared to in wild-type mice

• from P16 to P32, sciatic nerves contain increased endothelial cells, pericytes, macrophages, T lymphocytes, perineurial cells, endoneurial fibroblast, and adipocytes compared in wild-type mice

• sciatic nerves contain a dense layer of collagen and elastic fibers unlike in wild-type mice

• at P16 and P32, Remak bundles within the sciatic nerve are absent unlike in wild-type mice

• the perineural sheath is thinner than in wild-type mice

abnormal myelination ( J:162692 )

• in the sciatic nerve

abnormal action potential ( J:162692 )

• sciatic nerves compound action potentials lack the fast component unlike in wild-type mice

decreased nerve conduction velocity ( J:162692 )

• in the sciatic nerve

behavior/neurological

tremors ( J:162692 )

• shiverer-type

impaired coordination ( J:162692 )

abnormal limb posture ( J:162692 )

• mice develop a straddled position of the hindlimbs unlike wild-type mice

abnormal locomotor behavior ( J:162692 )

• mice exhibit progressive deterioration of locomotion unlike wild-type mice

abnormal gait ( J:162692 )

• staggering gait

growth/size/body

decreased body weight ( J:162692 )

• beginning at P8

• 52% lighter at P24

• 68% lighter at P32

postnatal growth retardation ( J:162692 )

• mice fail to thrive shortly after birth

cellular

increased neuron apoptosis ( J:162692 )

• increased in the sciatic nerve

abnormal neuron proliferation ( J:162692 )

• increased in the sciatic nerve

Genotype
MGI:4359761

cn7

• Allelic Composition: Pou3f1^tm1Mejr/Pou3f1^tm2.1Mejr; Pou3f2^tm1Mejr/Pou3f2^tm1Mejr; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

nervous system

abnormal axon morphology ( J:83739 )

• at P56 and P120 (about 55% and 25%), respectively, of nerves are abnormal with many promyelin configurations

abnormal myelination ( J:83739 )

• at P16 nerves contain many promyelin configurations in contrast to wild type and heterozygotes in which >90% of large-caliber axons are myelinated

• at P56 and P120, abnormal axons are thinly myelinated resembling wild-type nerves during the first postnatal week

Genotype
MGI:4359759

cn8

• Allelic Composition: Pou3f2^tm1Mejr/Pou3f2^tm1Mejr; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

nervous system

nervous system phenotype ( J:83739 )

N • animals are normal and healthy; sciatic nerves of P8 mice show no obvious morphological abnormalities

Genotype
MGI:5588149

cn9

• Allelic Composition: Ptpn11^tm1.1Wbm/Ptpn11^tm1.1Wbm; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

nervous system

decreased Schwann cell number ( J:207470 )

abnormal Schwann cell physiology ( J:207470 )

• disruption of entry into the myelination program of remaining Schwann cells

Genotype
MGI:5588162

cn10

• Allelic Composition: Erbb3^tm3Cbm/Erbb3^tm3Cbm; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

nervous system

absent Schwann cells ( J:207470 )

• almost complete absence of Schwann cells

Genotype
MGI:3711737

cn11

• Allelic Composition: Dmrtc2^tm1.1Zark/Dmrtc2^tm1.1Zark; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129S1/Sv * C57BL/6

endocrine/exocrine glands

small testis ( J:121537 )

♂ • testis size is slightly decreased in P14 mutants

reproductive system

reproductive system phenotype ( J:121537 )

N • spermatogenesis is normal; Sertoli cell location is normal

small testis ( J:121537 )

♂ • testis size is slightly decreased in P14 mutants

Genotype
MGI:5485414

cn12

• Allelic Composition: Pten^tm2.1Ppp/Pten^tm2.1Ppp; Tg(Cnp-EGFR)10Nrat/0; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/N * SJL

mortality/aging

premature death ( J:195067 )

• rapid postnatal death, with a medial survival age of 26 days

nervous system

abnormal nervous system morphology ( J:195067 )

• mutants exhibit enlarged peripheral nerves: brachial plexi, sacral plexi, trigeminal and sciatic nerves

• 100% exhibit enlarged branchial plexi

• 50% exhibit enlarged lumbar sacral plexi

• mast cells are seen in enlarged peripheral nerves

increased neurofibrosarcoma incidence ( J:195067 )

• enlarged peripheral nerves are graded as high-grade grade peripheral nerve sheath tumors (PNSTs) resembling human sporatic malignant grade peripheral nerve sheath tumors

abnormal trigeminal nerve morphology ( J:195067 )

• 92% exhibit enlarged trigeminal nerves

enlarged dorsal root ganglion ( J:195067 )

• mutants exhibit multiple enlarged dorsal root ganglia

abnormal sciatic nerve morphology ( J:195067 )

• 50% exhibit enlarged sciatic nerves

neoplasm

increased neurofibrosarcoma incidence ( J:195067 )

• enlarged peripheral nerves are graded as high-grade grade peripheral nerve sheath tumors (PNSTs) resembling human sporatic malignant grade peripheral nerve sheath tumors

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
malignant peripheral nerve sheath tumor		DOID:5940		J:195067

Genotype
MGI:5485415

cn13

• Allelic Composition: Pten^tm2.1Ppp/Pten⁺; Tg(Cnp-EGFR)10Nrat/0; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/N * SJL

nervous system

abnormal nervous system morphology ( J:195067 )

• mice display a similar peripheral nervous system phenotype as homozygous Pten^tm2.1Ppp Tg(Dhh-cre)1Mejr/0 mice, except with a latency of 415 days

• 100% exhibit enlarged branchial plexi

• 20% exhibit enlarged sacral plexi

increased neurofibrosarcoma incidence ( J:195067 )

• enlarged peripheral nerves are graded as hyperplasia to low-grade grade peripheral nerve sheath tumors (PNSTs)

abnormal trigeminal nerve morphology ( J:195067 )

• 100% exhibit enlarged trigeminal nerves

abnormal sciatic nerve morphology ( J:195067 )

• 80% exhibit enlarged sciatic nerves

neoplasm

increased neurofibrosarcoma incidence ( J:195067 )

• enlarged peripheral nerves are graded as hyperplasia to low-grade grade peripheral nerve sheath tumors (PNSTs)

Genotype
MGI:5485416

cn14

• Allelic Composition: Pten^tm2.1Ppp/Pten^tm2.1Ppp; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/N * SJL

mortality/aging

premature death ( J:195067 )

• median survival age is 247 days compared to conditional Pten heterozygotes that have a median survival age of 415 days

nervous system

abnormal nervous system morphology ( J:195067 )

• mutants exhibit a similar peripheral nervous system phenotype as triple homozygous Pten^tm2.1Ppp Tg(Dhh-cre)1Mejr/0 Tg(Cnp-EGFR)10Nrat/0 mutants but with delayed latency and reduced tumor multiplicity

• 100% exhibit enlarged branchial plexi

• 10% exhibit enlarged sacral plexi

increased neurofibrosarcoma incidence ( J:195067 )

• enlarged peripheral nerves are low-grade peripheral nerve sheath tumors (PNSTs)

abnormal trigeminal nerve morphology ( J:195067 )

• 90% exhibit enlarged trigeminal nerves

abnormal sciatic nerve morphology ( J:195067 )

• 80% exhibit enlarged sciatic nerves

neoplasm

increased neurofibrosarcoma incidence ( J:195067 )

• enlarged peripheral nerves are low-grade peripheral nerve sheath tumors (PNSTs)

Genotype
MGI:7523323

cn15

• Allelic Composition: Septin9^tm2.1Emfu/Septin9^tm2.1Emfu; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129S1/Sv * FVB/N

nervous system

nervous system phenotype ( J:339068 )

N • although the abundance of SEPTIN9 is markedly reduced in sciatic nerve lysates as expected, the abundance and localization of other septin subunits expressed in PNS myelin (SEPTIN2, SEPTIN7, SEPTIN8 and SEPTIN11) are similar to those in sciatic nerve lysates of control mice

N • P14 sciatic nerves show no significant change in the number of normal-appearing myelinated axons; no axonal degeneration is noted and the number of myelin outfoldings is similar to that in control mice, indicating normal biogenesis of PNS myelin

N • P75 sciatic nerves show similar abundance of myelin proteins (MAG, CNP, P0/MPZ, PMP22) relative to control mice

N • mice exhibit normal motor nerve conduction velocity (mNCV) in sciatic nerves and normal sensory nerve conduction velocity (sNCV) in the tail nerve at 6 months of age

behavior/neurological

behavior/neurological phenotype ( J:339068 )

N • mice show no alterations in the latency of retracting a hindpaw upon a mechanical stimulus (plantar test) at P45 or in the latency of falling from an accelerating rotating rod at 2.5 months of age

Genotype
MGI:6511254

cn16

• Allelic Composition: Cmtm6^{tm1c(EUCOMM)Wtsi}/Cmtm6^{tm1c(EUCOMM)Wtsi}; Mag^tm1Mtg/Mag^tm1Mtg; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6N * FVB/N

nervous system

abnormal axon morphology ( J:296495 )

• increased diameter of sciatic nerve axons

Genotype
MGI:6275135

cn17

• Allelic Composition: Nf1^tm1.1Kest/Nf1^{tm1c(KOMP)Wtsi}; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6N * C57BL/6NTac * FVB/N
• Cell Lines: EPD0033_1_F12

behavior/neurological

lethargy ( J:234172 )

hindlimb paralysis ( J:234172 )

• paralysis in one or both hind limbs begins at approximately 4 months of age, with 55.6% of mice showing paralysis by 5 months of age

growth/size/body

weight loss ( J:234172 )

homeostasis/metabolism

dehydration ( J:234172 )

immune system

dermatitis ( J:234172 )

integument

dermatitis ( J:234172 )

neoplasm

increased neurofibroma incidence ( J:234172 )

• 81.5% of mice exhibit neurofibroma tumors; tumors arise at the dorsal root ganglia, with invasion of the neural foramen and lead to compression of the spinal cord

• most tumors are detected in cervical and thoracic spine, with a lower percentage in the lumbar spine

• neurofibromas are characterized by disorganized Remak bundles and enriched deposition of collagen

nervous system

increased neurofibroma incidence ( J:234172 )

• 81.5% of mice exhibit neurofibroma tumors; tumors arise at the dorsal root ganglia, with invasion of the neural foramen and lead to compression of the spinal cord

• most tumors are detected in cervical and thoracic spine, with a lower percentage in the lumbar spine

• neurofibromas are characterized by disorganized Remak bundles and enriched deposition of collagen

abnormal somatic nervous system morphology ( J:234172 )

• enlarged peripheral nerves

abnormal spinal nerve morphology ( J:234172 )

• enlarged spinal nerve roots

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neurofibromatosis 1		DOID:0111253	OMIM:162200	J:234172

Genotype
MGI:6275138

cn18

• Allelic Composition: Nf1^{tm1c(KOMP)Wtsi}/Nf1^{tm1c(KOMP)Wtsi}; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6N * FVB/N
• Cell Lines: EPD0033_1_F12

behavior/neurological

lethargy ( J:234172 )

hindlimb paralysis ( J:234172 )

• paralysis in one or both hind limbs begins at approximately 4 months of age, with 54.1% of mice showing paralysis by 5 months of age

growth/size/body

weight loss ( J:234172 )

homeostasis/metabolism

dehydration ( J:234172 )

immune system

dermatitis ( J:234172 )

integument

dermatitis ( J:234172 )

neoplasm

increased neurofibroma incidence ( J:234172 )

• 79.2% of mice exhibit neurofibroma tumors; tumors arise at the dorsal root ganglia, with invasion of the neural foramen and lead to compression of the spinal cord

• most tumors are detected in cervical and thoracic spine, with a lower percentage in the lumbar spine

• neurofibromas are characterized by disorganized Remak bundles and enriched deposition of collagen

nervous system

increased neurofibroma incidence ( J:234172 )

• 79.2% of mice exhibit neurofibroma tumors; tumors arise at the dorsal root ganglia, with invasion of the neural foramen and lead to compression of the spinal cord

• most tumors are detected in cervical and thoracic spine, with a lower percentage in the lumbar spine

• neurofibromas are characterized by disorganized Remak bundles and enriched deposition of collagen

abnormal somatic nervous system morphology ( J:234172 )

• enlarged peripheral nerves

abnormal spinal nerve morphology ( J:234172 )

• enlarged spinal nerve roots and lesions in sciatic nerves showing abnormal nonmyelinating axons

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neurofibromatosis 1		DOID:0111253	OMIM:162200	J:234172

Genotype
MGI:7523329

cn19

• Allelic Composition: Septin2^{tm1c(EUCOMM)Wtsi}/Septin2^{tm1c(EUCOMM)Wtsi}; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6N * FVB/N
• Cell Lines: EPD0175_4_D03

nervous system

nervous system phenotype ( J:339068 )

N • P14 sciatic nerves show no significant change in the number of normal-appearing myelinated axons; no axonal degeneration is noted and the number of myelin outfoldings is similar to that in control mice, indicating normal biogenesis of PNS myelin

N • P75 sciatic nerves show similar abundance of myelin proteins (MAG, CNP, P0/MPZ, PMP22) relative to control mice

N • motor nerve conduction velocity (mNCV) in sciatic nerves and sensory nerve conduction velocity (sNCV) in the tail nerve are slightly but not significantly decreased at 1 year of age

abnormal sciatic nerve morphology ( J:339068 )

• while the abundance of SEPTIN2 is markedly reduced in sciatic nerve lysates as expected, the abundance of other septin subunits expressed in PNS myelin (SEPTIN7, SEPTIN8, SEPTIN9, and SEPTIN11) is also substantially lower than that in the sciatic nerve lysates of control mice

behavior/neurological

behavior/neurological phenotype ( J:339068 )

• mice show no alterations in the latency of retracting a hindpaw upon a mechanical stimulus (plantar test) at 32 weeks of age or in the latency of falling from an accelerating rotating rod at 6 months of age

Genotype
MGI:6511251

cn20

• Allelic Composition: Cmtm6^{tm1c(EUCOMM)Wtsi}/Cmtm6^{tm1c(EUCOMM)Wtsi}; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6N * FVB/N

nervous system

nervous system phenotype ( J:296495 )

N • normal internode length and nodal and paranodal dimensions

N • normal neurofilament density and phosphorylation

abnormal axon morphology ( J:296495 )

• increased diameter of phrenic and ventral tail nerve axons

• increased diameter of non-myelinated sciatic nerve axons in Remak bundles at ages P9 and 2 months

• normal myelin sheath thickness to axon diameter ratio for phrenic and ventral tail nerve axons

• normal number of axons per Remak bundle, with no axon diameters larger than 1 micrometer

• normal frequency of developmentally sorted promyelinated axons

abnormal action potential ( J:296495 )

• increased sensory nerve action potential (SNAP)

increased nerve conduction velocity ( J:296495 )

• increased sensory nerve conduction velocity (SNCV)

behavior/neurological

abnormal gait ( J:296495 )

• increased slipping when walking over a regular grid

decreased thermal nociceptive threshold ( J:296495 )

• accelerated reaction in hot plate test

respiratory system

abnormal pulmonary respiratory rate ( J:296495 )

• absence of spontaneous apnea

Genotype
MGI:4441315

cn21

• Allelic Composition: Adam22^tm1.1Mejr/Adam22^tm1.1Mejr; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129S4/SvJaeSor * FVB/N

nervous system

nervous system phenotype ( J:158973 )

N • motor neuron myelination is normal

Genotype
MGI:4441321

cn22

• Allelic Composition: Lgi4^tm1.1Jrb/Lgi4^tm1.1Jrb; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129S4/SvJaeSor * FVB/N

nervous system

demyelination ( J:158973 )

• in the sciatic nerve at P12 similar to Lgi4^clp homozygotes

Genotype
MGI:5754619

cn23

• Allelic Composition: Slc12a6^tm2.1Dlp/Slc12a6^tm2.1Dlp; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * FVB/N

behavior/neurological

behavior/neurological phenotype ( J:217087 )

N • mice display no locomotor deficit in the accelerated rotarod and open field tests relative to control mice

Genotype
MGI:5528812

cn24

• Allelic Composition: Cadm4^tm1.1Pele/Cadm4^tm1.1Pele; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129S/SvEv * 129S4/SvJaeSor * FVB/N

nervous system

abnormal myelin sheath morphology ( J:199632 )

• myelin abnormalities including tomacula, redundant myelin, and outfolds

Genotype
MGI:3851610

cn25

• Allelic Composition: Dmrt1^tm1Zark/Dmrt1^tm1.1Zark; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129/Sv * C57BL/6

endocrine/exocrine glands

abnormal testis development ( J:122954 )

♂ • at P9 Sertoli cells are randomly distributed unlike in controls

♂ • at P14 tubules lack luminal space and are instead filled with a poorly organized mix of Sertoli cells and differentiating germ cells

♂ • at P28 tubules contain no apparent germ cells and are filled with randomized, unpolarized Sertoli cells with immature morphology

abnormal Sertoli cell development ( J:122954 )

♂ • Sertoli cells fail to migrate properly and retain an immature morphology at P28

reproductive system

abnormal spermatogonia morphology ( J:122954 )

♂ • by P9 the distribution of germs cells is highly abnormal with more cells in the center and fewer cells at the periphery of the tubules

♂ • meiosis initiates but germ cells are absent by P28

abnormal testis development ( J:122954 )

♂ • at P9 Sertoli cells are randomly distributed unlike in controls

♂ • at P14 tubules lack luminal space and are instead filled with a poorly organized mix of Sertoli cells and differentiating germ cells

♂ • at P28 tubules contain no apparent germ cells and are filled with randomized, unpolarized Sertoli cells with immature morphology

abnormal Sertoli cell development ( J:122954 )

♂ • Sertoli cells fail to migrate properly and retain an immature morphology at P28

cellular

abnormal spermatogonia morphology ( J:122954 )

♂ • by P9 the distribution of germs cells is highly abnormal with more cells in the center and fewer cells at the periphery of the tubules

♂ • meiosis initiates but germ cells are absent by P28

Genotype
MGI:5588152

cn26

• Allelic Composition: Gt(ROSA)26Sor^{tm8(Map2k1*,EGFP)Rsky}/?; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: C57BL/6 * FVB/N

nervous system

nervous system phenotype ( J:207470 )

N • rarely observe aberrantly myelinated small axons in mutants and the ratio of nonmyelinated to myelinated axons is unchanged

Genotype
MGI:6117715

cn27

• Allelic Composition: Cemip^tm1.1Tac/Cemip^tm1.1Tac; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: C57BL/6NTac * FVB/N

nervous system

abnormal myelination ( J:244311 )

• transient acceleration of postnatal myelination

• however, adult myelination is normal

homeostasis/metabolism

abnormal response to injury ( J:244311 )

• following nerve axotomy or sciatic nerve crush, mice exhibit reduced myelin degradation and increases remyelination compared with wild-type mice

• however, sciatic function index and Von Frey threshold are normal after nerve crush

Genotype
MGI:7444421

cn28

• Allelic Composition: Adam23^tm1.1Mejr/Adam23^tm1.1Mejr; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: FVB/N

nervous system

nervous system phenotype ( J:333962 )

N • mice exhibit normal Kv1 channel complex protein at the juxtaparanodal membrane in sciatic nerves

Genotype
MGI:5460880

cn29

• Allelic Composition: Fgd4^tm1Ics/Fgd4^tm1Ics; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: FVB/N

nervous system

abnormal myelination ( J:190437 )

• aberrant myelin formation and myelin in peripheral nerves