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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Nogtm1Amc
targeted mutation 1, Andrew P McMahon
MGI:1862000
Summary 27 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Nogtm1Amc/Nogtm1Amc B6.129S1-Nogtm1Amc MGI:3624833
hm2
Nogtm1Amc/Nogtm1Amc D1.129S1-Nogtm1Amc MGI:3624830
hm3
Nogtm1Amc/Nogtm1Amc either: 129/Sv or (involves: 129S1/Sv * C57BL/6J) MGI:2672116
hm4
Nogtm1Amc/Nogtm1Amc either: (involves: 129S1/Sv * C57BL/6) or (involves: 129S1/Sv * CD-1 * ICR) MGI:3819135
hm5
Nogtm1Amc/Nogtm1Amc either: (involves: 129S1/Sv * CD-1) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) MGI:3819175
hm6
Nogtm1Amc/Nogtm1Amc involves: 129S1/Sv MGI:3723136
hm7
Nogtm1Amc/Nogtm1Amc involves: 129S1/Sv * C57BL/6J * FVB/N MGI:4430832
hm8
Nogtm1Amc/Nogtm1Amc involves: 129S1/Sv * C57BL/6J * ICR MGI:3819380
hm9
Nogtm1Amc/Nogtm1Amc involves: 129S1/Sv * CD-1 MGI:3624837
hm10
Nogtm1Amc/Nogtm1Amc involves: C57BL/6 MGI:3817999
ht11
Nogtm1Amc/Nog+ B6.129S1-Nogtm1Amc MGI:3624836
ht12
Nogtm1Amc/Nog+ D1.129S1-Nogtm1Amc MGI:3624831
ht13
Nogtm1Amc/Nog+ involves: 129S1/Sv * C57BL/6J * ICR MGI:3819381
ht14
Nogtm1Amc/Nog+ involves: 129S1/Sv * CD-1 MGI:3624838
ht15
Nogtm1Amc/Nog+ involves: C57BL/6J * FVB MGI:3819764
cx16
Bmp7tm1Kry/Bmp7tm1Kry
Nogtm1Amc/Nogtm1Amc
either: (involves: 129S1/Sv * C57BL/6) or (involves: 129S1/Sv * CD-1 * ICR) MGI:3819143
cx17
Nbl1tm1Rmh/Nbl1tm1Rmh
Nogtm1Amc/Nogtm1Amc
involves: 129P2/OlaHsd * 129S1/Sv * 129S6/SvEvTac MGI:3034044
cx18
Bmp4tm2Blh/Bmp4+
Nogtm1Amc/Nog+
involves: 129S1/Sv * 129S6/SvEvTac MGI:3818001
cx19
Bmp4tm2Blh/Bmp4+
Nogtm1Amc/Nogtm1Amc
involves: 129S1/Sv * 129S6/SvEvTac MGI:3818000
cx20
Cer1tm1Belo/Cer1tm1Belo
Nogtm1Amc/Nogtm1Amc
involves: 129S1/Sv * 129X1/SvJ MGI:3723131
cx21
Chrdtm1Emdr/Chrdtm1Emdr
Nogtm1Amc/Nogtm1Amc
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J MGI:2662585
cx22
Chrdtm1Emdr/Chrdtm1Emdr
Nogtm1Amc/Nogtm1Amc
involves: 129S1/Sv * 129X1/SvJ * ICR MGI:2173453
cx23
Nodaltm1Rob/Nodal+
Nogtm1Amc/Nogtm1Amc
involves: 129S/SvEv * 129S1/Sv MGI:4819102
cx24
Nogtm1Amc/Nogtm1Amc
Smad3tm1Xfw/Smad3+
involves: 129/Sv * 129S1/Sv MGI:4819098
cx25
Nogtm1Amc/Nogtm1Amc
Smad3tm1Xfw/Smad3tm1Xfw
involves: 129/Sv * 129S1/Sv MGI:4819101
cx26
Nogtm1Amc/Nog+
Smad3tm1Xfw/Smad3tm1Xfw
involves: 129/Sv * 129S1/Sv MGI:4819100
cx27
Nogtm1Amc/Nog+
Smad3tm1Xfw/Smad3+
involves: 129/Sv * 129S1/Sv MGI:4819099


Genotype
MGI:3624833
hm1
Allelic
Composition
Nogtm1Amc/Nogtm1Amc
Genetic
Background
B6.129S1-Nogtm1Amc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: embryo death before E14.5 on a B6.129S1 background

embryo
• Background Sensitivity: reduction in limb buds is seen on the C57BL/6 background but not so much on a CD-1 background

hearing/vestibular/ear
• at E17.5 incus is malformed
• at E17.5 malleus is malformed
• at E17.5 embryos display overgrown and fused ossicles not identifiable as discrete entities

craniofacial
• at E17.5 incus is malformed
• at E17.5 malleus is malformed
• at E17.5 embryos display overgrown and fused ossicles not identifiable as discrete entities

limbs/digits/tail
• Background Sensitivity: reduction in limb buds is seen on the C57BL/6 background but not so much on a CD-1 background

skeleton
• at E17.5 incus is malformed
• at E17.5 malleus is malformed
• at E17.5 embryos display overgrown and fused ossicles not identifiable as discrete entities




Genotype
MGI:3624830
hm2
Allelic
Composition
Nogtm1Amc/Nogtm1Amc
Genetic
Background
D1.129S1-Nogtm1Amc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

nervous system
• 25% penetrance, lower than on a CD-1 background




Genotype
MGI:2672116
hm3
Allelic
Composition
Nogtm1Amc/Nogtm1Amc
Genetic
Background
either: 129/Sv or (involves: 129S1/Sv * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

nervous system
• reduced in size
• Background Sensitivity: on a 129/Sv background the brain fails to close between the diencephalons and myelencephalon, sometimes remaining open all the way to the caudal limit
• Background Sensitivity: neural folds flatten at the 8-9 somite stage on the 129/Sv background
• Background Sensitivity: on a mixed background the brain closes
• becomes kinked on both backgrounds

embryo
• reduced in size
• Background Sensitivity: on a 129/Sv background the brain fails to close between the diencephalons and myelencephalon, sometimes remaining open all the way to the caudal limit
• Background Sensitivity: neural folds flatten at the 8-9 somite stage on the 129/Sv background
• Background Sensitivity: on a mixed background the brain closes
• occasional side branching and buckling at E10.5
• abnormalities become increasingly severe in a caudal direction

skeleton
• shortened axis between fore and hind limbs

vision/eye

hearing/vestibular/ear

limbs/digits/tail
• broad club shaped limbs
• reduced at E12.5, absent later

growth/size/body

integument
• significantly reduced numbers of hair follicles and fewer reach an advanced stage of morphogenesis than normal
• more apoptosis in hair placodes




Genotype
MGI:3819135
hm4
Allelic
Composition
Nogtm1Amc/Nogtm1Amc
Genetic
Background
either: (involves: 129S1/Sv * C57BL/6) or (involves: 129S1/Sv * CD-1 * ICR)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• at E11.5 embryos show open brain phenotype
• at E11.5 caudal neural tube is open
• abnormal at E8.5 and E9, indicating delayed detachment from dorsal foregut endoderm; appears hypertrophic compared to wild-type at E9
• no clear boundary between notochord and endoderm is detected at E8.5
• at E9.5, notochord has lateral branches close to or tethered to dorsal foregut in contrast to wild-type notochord
• increased apoptotic cell numbers are seen at E9.5-E9.75
• non-notochordal cells are observed within the notochord at E9.0

digestive/alimentary system
• at E10.5-11.5 most mutants display Type C esophageal atresia/tracheoesophageal fistula (EA/TEF); some embryos show milder phenotype indicative of esophageal stenosis
• at E9.5, reduction in dorsoventral diameter of the foregut is observed; dorsal foregut endoderm is reduced in mutant embryos
• loosening or loss of dorsal foregut cells is consistently observed at E9; endodermal cells show basement membrane disruption
• at E10.5-11.5, >80% of embryos display Type C esophageal atresia/tracheoesophageal fistula (EA/TEF)
• severe narrowing of the esophagus is seen by E9.5
• at E10.5-11.5, >80% of embryos display Type C esophageal atresia/tracheoesophageal fistula (EA/TEF) with the upper esophagus ending in a blind pouch and the lower esophagus connects to the trachea via a fistula

nervous system
• at E11.5 embryos show open brain phenotype
• at E11.5 caudal neural tube is open

respiratory system
• at E10.5-11.5, >80% of embryos display Type C esophageal atresia/tracheoesophageal fistula (EA/TEF) with the upper esophagus ending in a blind pouch and the lower esophagus connects to the trachea via a fistula

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
esophageal atresia/tracheoesophageal fistula DOID:0080171 OMIM:189960
J:118341




Genotype
MGI:3819175
hm5
Allelic
Composition
Nogtm1Amc/Nogtm1Amc
Genetic
Background
either: (involves: 129S1/Sv * CD-1) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• in embryos with elongated, rostrally-positioned Rathke's pouch, developed anterior lobe is absent
• morphologically distinct infundibulum is absent in most embryos examined between E12.5 and 16.5
• Rathke's pouch and anterior lobe development are severely affected
• some cell specification appears to occur in pituitary tissue
• secondary pituitary tissue is found in some embryos examined at E11.5-14.5 with percentage of affected embryos decreasing when examined at later time point (E15.5-18.5)
• domain of apoptosis normally observed on ventral side of pouch is absent in mutants at E10.5 and E11.5; apoptotic cells are not observed in mutants that do not achieve separation of Rathke's pouch
• severely malformed at E10.5 with multiple invaginations within oral ectoderm; some embryos show duplication of Rathke's pouch with the two invaginations widely spaced or arising adjacent to each other
• commonly, Rathke's pouch is elongated and extend more rostrally than in wild-type; eventually cartilage plate surrounds mutant pituitary tissue
• about 14% of embryos don't appear to have a Rathke's pouch at E12.5
• in some embryos an identifiable pituitary is not found at E12.5-16.5; normal position of pituitary is filled with mesenchyme in these embryos
• all normal pituitary hormones are detected in primary anterior lobe of mutants but levels are variable, dependent on number of terminally differentiated cells

nervous system
• severe neural tube defect is occasionally observed
• all normal pituitary hormones are detected in primary anterior lobe of mutants but levels are variable, dependent on number of terminally differentiated cells
• ventral diencephalon displays abnormalities
• a large domain of cell death is observed in ventral diencephalon of mutants but not in wild-type
• thickening of neuroepithelium in ventral diencephalon rostral to Rathke's pouch is decreased or absent in contrast to wild-type embryos
• in embryos with elongated, rostrally-positioned Rathke's pouch, developed anterior lobe is absent
• morphologically distinct infundibulum is absent in most embryos examined between E12.5 and 16.5
• Rathke's pouch and anterior lobe development are severely affected
• some cell specification appears to occur in pituitary tissue
• secondary pituitary tissue is found in some embryos examined at E11.5-14.5 with percentage of affected embryos decreasing when examined at later time point (E15.5-18.5)
• domain of apoptosis normally observed on ventral side of pouch is absent in mutants at E10.5 and E11.5; apoptotic cells are not observed in mutants that do not achieve separation of Rathke's pouch
• severely malformed at E10.5 with multiple invaginations within oral ectoderm; some embryos show duplication of Rathke's pouch with the two invaginations widely spaced or arising adjacent to each other
• commonly, Rathke's pouch is elongated and extend more rostrally than in wild-type; eventually cartilage plate surrounds mutant pituitary tissue
• about 14% of embryos don't appear to have a Rathke's pouch at E12.5
• in some embryos an identifiable pituitary is not found at E12.5-16.5; normal position of pituitary is filled with mesenchyme in these embryos

embryo
• severe neural tube defect is occasionally observed

growth/size/body
• with severe neural tube defect gross head morphology is altered, being split down anterior midline at E15.5




Genotype
MGI:3723136
hm6
Allelic
Composition
Nogtm1Amc/Nogtm1Amc
Genetic
Background
involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• time of death not specified (J:74136)
• mice all die perinatally (J:110617)

nervous system
• neural plate shows furrows and kinks in open cranial portion and closed spinal portion
• neural tube at level of forelimbs is mildly affected
• between the limbs, flattened neural mass beneath edematous tissue replaces neural tube
• all homozygous embryos from heterozygous crosses where females injected with folate or myo-inositol still show neural tube defects (NTDs)
• defective neurulation is detected at E9.0
• at E10 and E11, development of the spinal cord shows severe disruption, with regions of the neural tube appearing ruptured
• abnormalities in neural tube closure, particularly in the brain vesicles between the diencephalons and myelencephalon (J:74136)
• walls of neural tube remain relatively flat or convex rather than bending to form concave walls (J:110617)
• all but most rostral portion of neural tube remains splayed open with no surface ectoderm covering open neural tissue at E9.0
• all homozygotes have spina bifida; caudal to forelimb, dorsal neural arches are absent
• vertebral arches of axial skeleton are split in two, but surface ectoderm remains intact
• stillborn pups, spina bifida is restricted to the lumbar region between forelimb and hindlimb
• observed in embryos at E8 or E9
• observed in embryos at E8 or E9
• in mutants where the frontal, parietal and interparietal bones are absent, the brain is exposed at birth (J:74136)
• midbrain and hindbrain regions are directly exposed to extraembryonic environment (J:110617)
• large convoluted mass of brain tissue protrudes from head (J:110617)
• Background Sensitivity: exencephaly is completely penetrant on 129/Sv background, but is almost never observed on C57BL/6 background and is variably observed on mixed or outbred backgrounds (J:110617)
• by E14, spinal cord is splayed open and dysmorphic in lumbar region, but remains closed at forelimb level

skeleton
• all mutants show overgrowth and fusion of axial skeletal elements at birth
• at E14, axial skeleton supporting the spinal cord is malformed and deficient in lumbar region of embryo
• fusion of presphenoid, basisphenoid, and basioccipital bones
• frontal bone is loose or absent
• interparietal bone is loose or absent
• occipital condyles are loose, showing variability in the distance separating them
• parietal bone is loose or absent
• vertebral arches of axial skeleton are split in two, but surface ectoderm remains intact
• all homozygotes have spina bifida; caudal to forelimb, dorsal neural arches are absent
• vertebral arches of axial skeleton are split in two, but surface ectoderm remains intact
• stillborn pups, spina bifida is restricted to the lumbar region between forelimb and hindlimb
• caudal to forelimb, dorsal neural arches are absent

limbs/digits/tail
• truncated limbs

respiratory system
• at E15.5 all mice have abnormal lungs with malformed and truncated lobes
• blind-ended ectopic buds or diverticulum emerging near the junction of the main bronchi are present in 31% of embryos
• fusions of the right lobes are seen in 78% of embryos

craniofacial
• fusion of presphenoid, basisphenoid, and basioccipital bones
• frontal bone is loose or absent
• interparietal bone is loose or absent
• occipital condyles are loose, showing variability in the distance separating them
• parietal bone is loose or absent

cellular

embryo
• neural plate shows furrows and kinks in open cranial portion and closed spinal portion
• neural tube at level of forelimbs is mildly affected
• between the limbs, flattened neural mass beneath edematous tissue replaces neural tube
• all homozygous embryos from heterozygous crosses where females injected with folate or myo-inositol still show neural tube defects (NTDs)
• defective neurulation is detected at E9.0
• at E10 and E11, development of the spinal cord shows severe disruption, with regions of the neural tube appearing ruptured
• abnormalities in neural tube closure, particularly in the brain vesicles between the diencephalons and myelencephalon (J:74136)
• walls of neural tube remain relatively flat or convex rather than bending to form concave walls (J:110617)
• all but most rostral portion of neural tube remains splayed open with no surface ectoderm covering open neural tissue at E9.0
• all homozygotes have spina bifida; caudal to forelimb, dorsal neural arches are absent
• vertebral arches of axial skeleton are split in two, but surface ectoderm remains intact
• stillborn pups, spina bifida is restricted to the lumbar region between forelimb and hindlimb
• observed in embryos at E8 or E9
• observed in embryos at E8 or E9
• somite differentiation is disrupted in lumbar region of embryos at E9-10




Genotype
MGI:4430832
hm7
Allelic
Composition
Nogtm1Amc/Nogtm1Amc
Genetic
Background
involves: 129S1/Sv * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• length of cochlea is shorter by 35% compared to heterozygous controls at E18.5
• cochleae have occasional extra inner hair cells (IHCs) at the base of the cochlea, and two rows of IHCs in the middle and apical turns instead of a single row as in controls
• increase in IHCs is observed in any given region but is more pronounced in apical and middle turns
• total estimated IHC number based on entire length of cochlear duct is increased by 11%
• an extra row of outer hair cells (OHCs) is observed in the apical and middle turns of the cochleae; numbers increase significantly throughout each turn
• however, total estimated OHC number based on entire length of cochlear duct is decreased by 24% compared to heterozygous controls
• cochleae of controls show 1.75 turns compared to only 1 turn in mutants

nervous system
• cochleae have occasional extra inner hair cells (IHCs) at the base of the cochlea, and two rows of IHCs in the middle and apical turns instead of a single row as in controls
• increase in IHCs is observed in any given region but is more pronounced in apical and middle turns
• total estimated IHC number based on entire length of cochlear duct is increased by 11%
• an extra row of outer hair cells (OHCs) is observed in the apical and middle turns of the cochleae; numbers increase significantly throughout each turn
• however, total estimated OHC number based on entire length of cochlear duct is decreased by 24% compared to heterozygous controls




Genotype
MGI:3819380
hm8
Allelic
Composition
Nogtm1Amc/Nogtm1Amc
Genetic
Background
involves: 129S1/Sv * C57BL/6J * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• UGS is smaller at E17 in males
• incomplete separation of the hindgut from the urogenital sinus (UGS) is observed in some embryos
• at E17 males have a fistulous connection between hindgut and dorsal surface of UGS; females show similar defects at E17
• at E14 ventral mesenchymal cell density of UGS is reduced relative to E14 wild-type embryos indicating defective development of the ventral mesenchyme pad; this reduced cell density occurs along with decreased epithelial cell proliferation in the ventral UGS
• at P1 this is observed as reduction in ventral mesenchyme pad thickness and density

reproductive system
• dorsal ridges are absent or reduced in size; dorsal sulcus is missing and ejaculatory duct connection is exposed
• some males show agenesis of the bulbourethral gland
• dorsal and lateral buds are reduced in number but a degree of ductal branching is observed in all embryos
• in developing embryos the ventral prostate (VP) bud is absent
• in developing prostate the coagulating gland bud is absent
• varying degrees of cryptorchism ranging from high intra-abdominal position to complete descent

renal/urinary system
• occasionally an ectopic kidney is observed in the pelvic cavity
• some males exhibit agenesis of the membranous (pelvic) urethra while others develop a preursor urethral epithelial tube
• angle between bladder neck and urethra in urogenital sinus (UGS) is much larger than the approximate 90 degrees seen in wild-type embryos

digestive/alimentary system
• fistulous connection between hindgut and dorsal UGS surface is typically associated with anal atresia in males and females

endocrine/exocrine glands
• some males show agenesis of the bulbourethral gland
• dorsal and lateral buds are reduced in number but a degree of ductal branching is observed in all embryos
• in developing embryos the ventral prostate (VP) bud is absent
• in developing prostate the coagulating gland bud is absent
• varying degrees of cryptorchism ranging from high intra-abdominal position to complete descent

limbs/digits/tail
• some embryos exhibit agenesis of the tail




Genotype
MGI:3624837
hm9
Allelic
Composition
Nogtm1Amc/Nogtm1Amc
Genetic
Background
involves: 129S1/Sv * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

skeleton
• elbow fusion
• highly variable throughout the skeleton but characteristic for each region

limbs/digits/tail
• newbrons exhibit stubby limbs
• Background Sensitivity: limb bud phenotype is much less pronounced, such that they almost appear normal, in the CD-1 background compared to the C57BL/6 background
• degeneration of the tail structure is seen at E12.5

homeostasis/metabolism
• observed at E14.5

muscle
• reduced muscle tissue in newborns
• myofibers in loose structures rather than tightly packed

cardiovascular system
• a large hematoma is often seen in the degenerating tail at E12.5 and by E14.5, hematomas in other parts of the body are seen

nervous system
• Background Sensitivity: 60% penetrance, higher than on a DBA/1 background

growth/size/body
• shorter along the rostral-caudal axis

embryo
• Background Sensitivity: limb bud phenotype is much less pronounced, such that they almost appear normal, in the CD-1 background compared to the C57BL/6 background

integument
• rudimentary hair follicles at E18.5




Genotype
MGI:3817999
hm10
Allelic
Composition
Nogtm1Amc/Nogtm1Amc
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice all die perinatally

nervous system
• all homozygotes display spinal neural tube defects
• never observed on C57BL/6 inbred background

skeleton
• all homozygotes display severe skeletal malformations

craniofacial
• some mutants show severe craniofacial truncations
• some mutants show mild facial truncations

embryo
• all homozygotes display spinal neural tube defects

growth/size/body
• some mutants show mild facial truncations




Genotype
MGI:3624836
ht11
Allelic
Composition
Nogtm1Amc/Nog+
Genetic
Background
B6.129S1-Nogtm1Amc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• reduced rib cage due to malformed ribs
• carpal and tarsal fusions in 100% of mice in all backgrounds
• no additional fusions throughout life

limbs/digits/tail
• in embryos at E14.5




Genotype
MGI:3624831
ht12
Allelic
Composition
Nogtm1Amc/Nog+
Genetic
Background
D1.129S1-Nogtm1Amc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• in mice aged E15.5 to P4 the ectopic bone is located between the stapes and styloid process, likely due to failure of the stapes and styloid process to separate normally
• mice displaying hearing threshold shifts of >10 dB at two or more frequencies have an extra bone fragment between posterior crus of stapes and posterior wall of tympanium
• fragment is located where stapedius muscle is connected to temporal bone in wild-type ears
• no extra bone fragment associated with the malleus or incus was observed
• mice with threshold shifts >10 dB show rigid extra bone bridge in middle ear cavity; mice with less severe or unaffected threshold changes have bone fragments consisting of two unfused pieces that are found in the same location as in significantly affected ears
• bone bridges are not observed in unaffected or mildly affected ears
• in mice aged E15.5 to P4 the ectopic bone is located between the stapes and styloid process, likely due to failure of the stapes and styloid process to separate normally
• reduced rib cage due to malformed ribs
• carpal and tarsal fusions in 100% of mice in all backgrounds
• no additional fusions throughout life

limbs/digits/tail
• in embryos at E14.5

craniofacial
• in mice aged E15.5 to P4 the ectopic bone is located between the stapes and styloid process, likely due to failure of the stapes and styloid process to separate normally
• mice displaying hearing threshold shifts of >10 dB at two or more frequencies have an extra bone fragment between posterior crus of stapes and posterior wall of tympanium
• fragment is located where stapedius muscle is connected to temporal bone in wild-type ears
• no extra bone fragment associated with the malleus or incus was observed
• mice with threshold shifts >10 dB show rigid extra bone bridge in middle ear cavity; mice with less severe or unaffected threshold changes have bone fragments consisting of two unfused pieces that are found in the same location as in significantly affected ears
• bone bridges are not observed in unaffected or mildly affected ears
• in mice aged E15.5 to P4 the ectopic bone is located between the stapes and styloid process, likely due to failure of the stapes and styloid process to separate normally

hearing/vestibular/ear
• mice displaying hearing threshold shifts of >10 dB at two or more frequencies have an extra bone fragment between posterior crus of stapes and posterior wall of tympanium
• fragment is located where stapedius muscle is connected to temporal bone in wild-type ears
• no extra bone fragment associated with the malleus or incus was observed
• mice with threshold shifts >10 dB show rigid extra bone bridge in middle ear cavity; mice with less severe or unaffected threshold changes have bone fragments consisting of two unfused pieces that are found in the same location as in significantly affected ears
• bone bridges are not observed in unaffected or mildly affected ears
• in mice aged E15.5 to P4 the ectopic bone is located between the stapes and styloid process, likely due to failure of the stapes and styloid process to separate normally
• Background Sensitivity: many animals on congenic background show increased ABR thresholds relative to wild-type mice; these animals hearing threshold shifts >10dB at 2 or more different frequencies in one or both ears
• remaining mice do not show significant threshold differences from wild-type




Genotype
MGI:3819381
ht13
Allelic
Composition
Nogtm1Amc/Nog+
Genetic
Background
involves: 129S1/Sv * C57BL/6J * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• at P35, ventral prostate lobe weight is significantly lower than in wild-type males
• however, no differences in weights of dorsolateral prostate or coagulating gland weights or in numbers of main ducts, branch points or tips are observed relative to wild-type prostate lobes

reproductive system
• at P35, ventral prostate lobe weight is significantly lower than in wild-type males
• however, no differences in weights of dorsolateral prostate or coagulating gland weights or in numbers of main ducts, branch points or tips are observed relative to wild-type prostate lobes




Genotype
MGI:3624838
ht14
Allelic
Composition
Nogtm1Amc/Nog+
Genetic
Background
involves: 129S1/Sv * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• reduced rib cage due to malformed ribs
• Background Sensitivity: in 30% of mice
• carpal and tarsal fusions in 100% of mice in all backgrounds
• no additional fusions throughout life

limbs/digits/tail
• in embryos at E14.5




Genotype
MGI:3819764
ht15
Allelic
Composition
Nogtm1Amc/Nog+
Genetic
Background
involves: C57BL/6J * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
N
• Background Sensitivity: no hearing impairment is observed in heterozygous mice on a mixed background




Genotype
MGI:3819143
cx16
Allelic
Composition
Bmp7tm1Kry/Bmp7tm1Kry
Nogtm1Amc/Nogtm1Amc
Genetic
Background
either: (involves: 129S1/Sv * C57BL/6) or (involves: 129S1/Sv * CD-1 * ICR)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp7tm1Kry mutation (1 available); any Bmp7 mutation (37 available)
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no live mutants are recovered at birth

digestive/alimentary system
N
• foregut tubes show rescue of the narrowing defect seen in Nog-null embryos at E9.5

nervous system
N
• notochord development is largely rescued in double mutants in contrast to Nog-null embryos at E9.5; caudal neural tube is relatively normal at E11.5




Genotype
MGI:3034044
cx17
Allelic
Composition
Nbl1tm1Rmh/Nbl1tm1Rmh
Nogtm1Amc/Nogtm1Amc
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nbl1tm1Rmh mutation (0 available); any Nbl1 mutation (16 available)
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• vertebral transformation of the last lumbar vertebrae to a sacral fate




Genotype
MGI:3818001
cx18
Allelic
Composition
Bmp4tm2Blh/Bmp4+
Nogtm1Amc/Nog+
Genetic
Background
involves: 129S1/Sv * 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm2Blh mutation (1 available); any Bmp4 mutation (21 available)
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• embryos show no abnormal phenotype




Genotype
MGI:3818000
cx19
Allelic
Composition
Bmp4tm2Blh/Bmp4+
Nogtm1Amc/Nogtm1Amc
Genetic
Background
involves: 129S1/Sv * 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm2Blh mutation (1 available); any Bmp4 mutation (21 available)
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• at E14, neural tube is closed, showing partial phenotypic rescue of neural tube defect seen in Nog-null embryos

skeleton
• at E17, lumbar vertebrae are more developed than in Nog-null embryos
• neural arches are present but noticeably dysmorphic




Genotype
MGI:3723131
cx20
Allelic
Composition
Cer1tm1Belo/Cer1tm1Belo
Nogtm1Amc/Nogtm1Amc
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cer1tm1Belo mutation (0 available); any Cer1 mutation (11 available)
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• double homozygotes exhibit the same abnormalities as single homozygous Nog mutants

nervous system
• abnormalities is neural tube closure, particularly in the brain vesicles between the diencephalons and myelencephalon
• in mutants where the frontal, parietal and interparietal bones are absent, the brain is exposed at birth

skeleton
• fusion of presphenoid, basisphenoid, and basioccipital bones
• frontal bone is loose or absent
• interparietal bones are loose or absent
• occipital condyles are loose, showing variability in the distance separating them
• parietal bone is loose or absent

limbs/digits/tail
• truncated limbs

craniofacial
• fusion of presphenoid, basisphenoid, and basioccipital bones
• frontal bone is loose or absent
• interparietal bones are loose or absent
• occipital condyles are loose, showing variability in the distance separating them
• parietal bone is loose or absent

embryo
• abnormalities is neural tube closure, particularly in the brain vesicles between the diencephalons and myelencephalon




Genotype
MGI:2662585
cx21
Allelic
Composition
Chrdtm1Emdr/Chrdtm1Emdr
Nogtm1Amc/Nogtm1Amc
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chrdtm1Emdr mutation (1 available); any Chrd mutation (49 available)
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no double homozygotes are recovered among neonates
• only 2 (out of 20 expected) double homozygotes are recovered close to term, both undergoing resorption
• only 3 (out of 10 expected) double homozygotes are recovered at E12.5
• only 14 (out of 18 expected) double homozygotes are recovered at E8.5

nervous system
• double homozygotes recovered at E12.5 lack extensive areas of the forebrain, anterior to the hindbrain
• at E12.5, telencephalon and diencephalon are reduced to a single thin neural vesicle
• anterior defects are noted at the start of neurulation (E7.5); however, the AVE is initially formed
• in contrast, formation of the midbrain and more posterior brain structures remains unaffected
• double homozygotes recovered at E12.5 display a more severe phenotype resembling aprosencephaly
• double homozygotes recovered close to term exhibit holoprosencephaly
• at E8.5, double homozygotes show significant loss of forebrain tissue
• at E12.5, telencephalon and diencephalon are reduced to a single thin neural vesicle
• at E12.5, telencephalon and diencephalon are reduced to a single thin neural vesicle

craniofacial
• holoprosencephalic double homozygotes recovered close to term exhibit agnathia
• double homozygotes recovered at E12.5 lack nasal (olfactory) placodes
• double homozygotes recovered at E12.5 lack extensive facial structures
• holoprosencephalic double homozygotes recovered close to term exhibit a single nasal pit (proboscis)

skeleton
• holoprosencephalic double homozygotes recovered close to term exhibit agnathia
• at E12.5, double homozygotes show absence of sclerotome in cervical regions

vision/eye
• holoprosencephalic double homozygotes recovered close to term exhibit cyclopia
• double homozygotes recovered at E12.5 lack eyes

taste/olfaction
• double homozygotes recovered at E12.5 lack nasal (olfactory) placodes

respiratory system
• double homozygotes recovered at E12.5 lack nasal (olfactory) placodes
• at E8.5, the trachea fails to form, and a common tracheo-esophageal duct connects the pharynx to the lungs and stomach
• at E8.5, the anterior pharynx is reduced

cardiovascular system
• at early somites stages, double homozygotes exhibit inverted cardiac looping, with the prospective heart ventricle looping to the left

embryo
• double homozygotes show defects in dorsal mesendoderm development (notochord, sclerotome, foregut)
• at E8.5, 4 of 7 double homozygotes display heart inversions, indicating randomization of the heart situs
• at early somites stages, double homozygotes display a reduction in anterior neural folds
• at E12.5, double homozygotes show absence of a notochord in cervical regions

digestive/alimentary system
• at E8.5, the trachea fails to form, and a common tracheo-esophageal duct connects the pharynx to the lungs and stomach

growth/size/body
• double homozygotes recovered at E12.5 lack extensive facial structures
• holoprosencephalic double homozygotes recovered close to term exhibit a single nasal pit (proboscis)




Genotype
MGI:2173453
cx22
Allelic
Composition
Chrdtm1Emdr/Chrdtm1Emdr
Nogtm1Amc/Nogtm1Amc
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chrdtm1Emdr mutation (1 available); any Chrd mutation (49 available)
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• at E9.0 mutants show no directional looping of the heart; cardiac looping is abnormal or reversed in >90% of embryos




Genotype
MGI:4819102
cx23
Allelic
Composition
Nodaltm1Rob/Nodal+
Nogtm1Amc/Nogtm1Amc
Genetic
Background
involves: 129S/SvEv * 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nodaltm1Rob mutation (1 available); any Nodal mutation (41 available)
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
N
• no defects are detected in anterior midline tissues




Genotype
MGI:4819098
cx24
Allelic
Composition
Nogtm1Amc/Nogtm1Amc
Smad3tm1Xfw/Smad3+
Genetic
Background
involves: 129/Sv * 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
Smad3tm1Xfw mutation (0 available); any Smad3 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• in 29% of mice

embryo
• expression analysis indicates defects in patterning and function in the anterior most axial mesendoderm
• 29% (17 of 58) show defects in anterior midline tissues
• expression analysis indicates impairment in ADE specification
• expression analysis indicates defects in patterning and function
• expression analysis indicates a defect in anterior primitive streak development

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
holoprosencephaly DOID:4621 OMIM:PS236100
J:161524




Genotype
MGI:4819101
cx25
Allelic
Composition
Nogtm1Amc/Nogtm1Amc
Smad3tm1Xfw/Smad3tm1Xfw
Genetic
Background
involves: 129/Sv * 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
Smad3tm1Xfw mutation (0 available); any Smad3 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• in 60% of mice

embryo
• 60% (18 of 30) show defects in anterior midline tissues




Genotype
MGI:4819100
cx26
Allelic
Composition
Nogtm1Amc/Nog+
Smad3tm1Xfw/Smad3tm1Xfw
Genetic
Background
involves: 129/Sv * 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
Smad3tm1Xfw mutation (0 available); any Smad3 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• in 2 of 16 mice

embryo
• 13% (2 of 16) show defects in anterior midline tissues




Genotype
MGI:4819099
cx27
Allelic
Composition
Nogtm1Amc/Nog+
Smad3tm1Xfw/Smad3+
Genetic
Background
involves: 129/Sv * 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nogtm1Amc mutation (3 available); any Nog mutation (18 available)
Smad3tm1Xfw mutation (0 available); any Smad3 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• 5% (3 of 61) show defects in anterior midline tissues





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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory