Mouse Genome Informatics
cn1
    Cdkn1ctm2.1Kei/Cdkn1c+
Tg(EIIa-cre)C5379Lmgd/0

B6.Cg-Cdkn1ctm2.1Kei Tg(EIIa-cre)C5379Lmgd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
renal/urinary system
• when Cdkn1ctm2.1Kei is inherited maternally, mice exhibit atrophy of the renal papilla compared with control mice


Mouse Genome Informatics
cn2
    Fgfr2tm1Ewj/Fgfr2+
Tg(EIIa-cre)C5379Lmgd/0

B6.Cg-Fgfr2tm1Ewj Tg(EIIa-cre)C5379Lmgd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
skeleton
• mice exhibit premature closure of the suture between the zygomatic process of the maxilla and the zygomatic bones and the premaxillary-maxillary sutures unlike wild-type mice
• the inter-premaxillary suture appears patent unlike in wild-type mice
• the suture between the horizontal plate of the palatine bone and palatal process of the maxilla is fused unlike in wild-type mice
• skull height is increased compared to in wild-type mice
• mice exhibit shorter maxilla than wild-type and cre-recombined Fgfr2tm2Ewj heterozygotes
• the nasal region is shorter than in wild-type mice
• coronal sutures exhibit increased osteogenic differentiation and accelerated bone growth compared to in wild-type mice
• however, apoptosis rates at coronal sutures is normal
• as determined by marker expression, osteoblast differentiation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice
• mice exhibit coronal synostosis unlike wild-type mice
• at P0, mice exhibit coronal suture presynostosis or synostosis unlike wild-type mice
• osteoblast proliferation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice

craniofacial
• mice exhibit premature closure of the suture between the zygomatic process of the maxilla and the zygomatic bones and the premaxillary-maxillary sutures unlike wild-type mice
• the inter-premaxillary suture appears patent unlike in wild-type mice
• the suture between the horizontal plate of the palatine bone and palatal process of the maxilla is fused unlike in wild-type mice
• skull height is increased compared to in wild-type mice
• mice exhibit shorter maxilla than wild-type and cre-recombined Fgfr2tm2Ewj heterozygotes
• the nasal region is shorter than in wild-type mice
• the most posterior portion of the palate is reduced compared to in wild-type mice
• the midline suture between the horizontal plates of the palatine bones is patent compared to controls
• in 1 of 8 mice the suture between the horizontal plate of the palatine bone and the palatal shelf of the maxilla is patent compared with 7 of 12 wild-type mice
• mice exhibit shorter palate than wild-type and cre-recombined Fgfr2tm2Ewj heterozygotes

digestive/alimentary system
• the most posterior portion of the palate is reduced compared to in wild-type mice
• the midline suture between the horizontal plates of the palatine bones is patent compared to controls
• in 1 of 8 mice the suture between the horizontal plate of the palatine bone and the palatal shelf of the maxilla is patent compared with 7 of 12 wild-type mice
• mice exhibit shorter palate than wild-type and cre-recombined Fgfr2tm2Ewj heterozygotes

cellular
• as determined by marker expression, osteoblast differentiation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice

vision/eye
• intercanthal distance is reduced compared to in wild-type mice


Mouse Genome Informatics
cn3
    Fgfr2tm2Ewj/Fgfr2+
Tg(EIIa-cre)C5379Lmgd/0

B6.Cg-Fgfr2tm2Ewj Tg(EIIa-cre)C5379Lmgd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• almost half of all mice die within 24 to 36 hours of birth
• most mice die within 2 weeks of birth with very few surviving to 3 weeks

skeleton
• the anterior and overall length of the cranial base is decreased compared to in wild-type mice
• mice exhibit a patent inter-premaxillary suture with fusion of the premaxilla-maxillary sutures unlike wild-type mice
• mice exhibit premature closure of the suture between the zygomatic process of the maxilla and the zygomatic bones and the premaxillary-maxillary sutures unlike wild-type mice
• mice exhibit unilateral or bilateral coronal synostosis unlike wild-type mice
• with proximate osteogenic fronts and cellular disorganization at P0
• at E16.5 to P0, mice exhibit ectopic cartilage at the sagittal suture unlike wild-type mice
• skull height is increased compared to in wild-type mice
• the zygomatic process of the maxilla and malar bone are fused unlike in wild-type mice
• the nasal region is shorter than in wild-type mice and cre-recombined Fgfr2tm1Ewj heterozygotes
• the zygomatic process of the maxilla and malar bone are fused unlike in wild-type mice
• at P10
• at P10
• at P10
• at P10
• at P0, all mice exhibit bony fusions of the sternum unlike wild-type mice
• coronal sutures exhibit increased osteogenic differentiation and accelerated bone growth compared to in wild-type mice
• however, apoptosis rates at coronal sutures is normal
• at E17.5 to P0, the physis hypertrophic zone is disorganized compared to in wild-type mice
• as determined by marker expression at E19, osteoblast differentiation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice
• at P0, mice exhibit coronal suture presynostosis unlike wild-type mice
• at E19, osteoblast proliferation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice

craniofacial
• the anterior and overall length of the cranial base is decreased compared to in wild-type mice
• mice exhibit a patent inter-premaxillary suture with fusion of the premaxilla-maxillary sutures unlike wild-type mice
• mice exhibit premature closure of the suture between the zygomatic process of the maxilla and the zygomatic bones and the premaxillary-maxillary sutures unlike wild-type mice
• mice exhibit unilateral or bilateral coronal synostosis unlike wild-type mice
• with proximate osteogenic fronts and cellular disorganization at P0
• at E16.5 to P0, mice exhibit ectopic cartilage at the sagittal suture unlike wild-type mice
• skull height is increased compared to in wild-type mice
• the zygomatic process of the maxilla and malar bone are fused unlike in wild-type mice
• the nasal region is shorter than in wild-type mice and cre-recombined Fgfr2tm1Ewj heterozygotes
• the zygomatic process of the maxilla and malar bone are fused unlike in wild-type mice
• from E15.5 to P0, all mice exhibit bilaterally incomplete fusion at the junction of the primary and secondary palatal shelves unlike in wild-type mice
• the midline suture between the horizontal plates of the palatine bones is patent unlike in wild-type mice
• in 9 of 10 mice the suture between the horizontal plate of the palatine bone and the palatal shelf of the maxilla is patent compared with 3 of 7 wild-type mice

growth/size
• beginning at P5

digestive/alimentary system
• from E15.5 to P0, all mice exhibit bilaterally incomplete fusion at the junction of the primary and secondary palatal shelves unlike in wild-type mice
• the midline suture between the horizontal plates of the palatine bones is patent unlike in wild-type mice
• in 9 of 10 mice the suture between the horizontal plate of the palatine bone and the palatal shelf of the maxilla is patent compared with 3 of 7 wild-type mice

limbs/digits/tail
• at P10
• at P10
• at P10
• at P10

cellular
• as determined by marker expression at E19, osteoblast differentiation at the chondro-osseuous junction and the metaphysis is increased compared to in wild-type mice

vision/eye
• intercanthal distance is reduced compared to in wild-type mice

Mouse Models of Human Disease
OMIM IDRef(s)
Apert Syndrome 101200 J:158773


Mouse Genome Informatics
cn4
    Mfn1tm1Dcc/Mfn1tm2Dcc
Tg(EIIa-cre)C5379Lmgd/0

involves: 129 * 129S4/SvJaeSor * Black Swiss * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• embryos die during mid-gestation similar to Mfn1tm1Dcc homozygous embryos


Mouse Genome Informatics
cn5
    Mfn2tm1Dcc/Mfn2tm3Dcc
Tg(EIIa-cre)C5379Lmgd/0

involves: 129 * 129S4/SvJaeSor * Black Swiss * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• embryos die during mid-gestation similar to Mfn2tm1Dcc homozygous embryos


Mouse Genome Informatics
cn6
    Tgfb3tm1Moaz/Tgfb3tm1.1Moaz
Tg(EIIa-cre)C5379Lmgd/0

involves: 129 * Black Swiss * C57BL/6J * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• although born at the expected ratio, homozyotes gasp, suckle poorly and die

respiratory system
• gasping after birth

behavior/neurological
• suckle poorly
• little or no milk in their stomachs

craniofacial
• complete or partial cleft palate in all E18.5 embryos and in new born pups

digestive/alimentary system
• complete or partial cleft palate in all E18.5 embryos and in new born pups


Mouse Genome Informatics
cn7
    Robo2tm1Rilm/Robo2tm1.1Rilm
Tg(EIIa-cre)C5379Lmgd/?

involves: 129 * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
renal/urinary system
• mice exhibit unilateral urinary tract abnormalities, including short ureter, megaureter, and hydronephrosis
• kidney parenchyma is replaced by large cysts
• in some males the ureter is connected to the vas deferens resulting in massive hydronephrosis
• ureterovesical junctions associated with obstructions lead to megaureter and hydronephrosis
• ureterovesical junctions associated with obstructions lead to megaureter and hydronephrosis
• 7 of 10 mice exhibit bilateral ureterovesical junction defects, where one UVJ is typically located laterally and cephalad in the bladder (commonly associated with reflux in man) whereas the contralateral UVJ is located caudad in the bladder or even ectopically in the urethra
• the caudal UVJ location is associated with obstruction, leading to megaureter and severe hydronephrosis

reproductive system
• in some males the ureter is connected to the vas deferens resulting in massive hydronephrosis (J:125214)


Mouse Genome Informatics
cn8
    Cfptm2.1Song/Cfptm2.1Song
Tg(EIIa-cre)C5379Lmgd/0

involves: 129 * C57BL/6 * FVB/N * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
• LPS-induced alternative pathway (AP) complement activation is impaired unlike in wild-type mice (J:165497)


Mouse Genome Informatics
cn9
    Fgf13tm1Xuzh/Y
Tg(EIIa-cre)C5379Lmgd/0

involves: 129 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• mice exhibit impaired hippocampal development compared with wild-type mice (J:186253)
• however, positioning of hippocampal neurons is normal by P30 (J:186253)
• mice exhibit loosely packed neurons in the granule cell layer of the dentrate gyrus compared with wild-type mice (J:186253)
• the dentate gyrus exhibit increased neuron numbers in the polymorphic layer compared with in wild-type mice (J:186253)
• mice exhibit loosely packed neurons in the granule cell layer of the dentrate gyrus compared with wild-type mice (J:186253)
• neurons exhibit impaired stabilization of microtubule organization in growth cones compared with wild-type cells (J:186253)
• at E18, Cux1+ neurons are mislocalized in the deep layers of the lateral somatosensory cortex compared to in wild-type mice (J:186253)
• mice exhibit more loosely arrayed neurons with irregular inner and outer borders in the C1 pyramidal layer compared to in wild-type mice (J:186253)
• reduced Cux1+ cells (J:186253)
• however, the number of Cux1+ neurons are normal at P14 and during adulthood (J:186253)
• Tbr1+ neurons in the deep layer is increased compared to in wild-type mice (J:186253)

behavior/neurological
• in a Morris water maze (J:186253)
• in a Morris water maze (J:186253)


Mouse Genome Informatics
cn10
    Fgf13tm1Xuzh/Fgf13tm1Xuzh
Tg(EIIa-cre)C5379Lmgd/0

involves: 129 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
• in a Morris water maze (J:186253)
• in a Morris water maze (J:186253)

nervous system
• neurons exhibit impaired stabilization of microtubule organization in growth cones compared with wild-type cells (J:186253)


Mouse Genome Informatics
cn11
    Igf1tm1Dlr/Igf1tm1Dlr
Tg(EIIa-cre)C5379Lmgd/0

involves: 129/Sv * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• some perinatal mortality but many survive

growth/size
• 72% of control weight at 3 weeks of age, 68% at 6 weeks
• fetus at E19 or E20 weighs only 69% as much as comparable controls


Mouse Genome Informatics
cn12
    Cacna1atm2.1Maag/Cacna1atm2.2Maag
Tg(EIIa-cre)C5379Lmgd/0

involves: 129P2/OlaHsd * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• die around P20-22 if left unaided

behavior/neurological
• progressive, severe ataxia starting around P10-12
• progressive, severe dystonia starting around P10-12

nervous system
• acetylcholine release is insensitive to 200 nM omega-Agatoxin-IVA in neuromuscular junctions
• about a 40% reduction in quantal content in neuromuscular junctions

growth/size

muscle
• progressive, severe dystonia starting around P10-12


Mouse Genome Informatics
cn13
    Slc6a9tm1Veul/Slc6a9tm1Veul
Tg(EIIa-cre)C5379Lmgd/?

involves: 129P2/OlaHsd * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• die within 8 hours of birth

muscle

behavior/neurological


Mouse Genome Informatics
cn14
    Tet2tm1.1Iaai/Tet2tm1.1Iaai
Tg(EIIa-cre)C5379Lmgd/0

involves: 129S/SvEv * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
normal phenotype
• mice are born with at the expected Mendelian ratio with normal growth and organ development


Mouse Genome Informatics
cn15
    Wlstm1.1Lan/Wlstm1.1Lan
Tg(EIIa-cre)C5379Lmgd/0

involves: 129S/SvEv * FVB/N * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• at E8.5, 9 of 10 embryos are in the process of being reabsorbed

embryogenesis
• germline homozygotes appear arrested at E6, they do not progress past the egg cylinder stage, and by morphological criteria lack mesoderm


Mouse Genome Informatics
cn16
    Gata6tm2.1Sad/Gata6tm2.2Sad
Tg(EIIa-cre)C5379Lmgd/0

involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 * FVB * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• between E8.5 and E11.5 all Cre positive double mutants appear to be partially resorbed empty decidual masses


Mouse Genome Informatics
cn17
    Fgfr2tm1Ewj/Fgfr2+
Tg(EIIa-cre)C5379Lmgd/0

involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• mutants with complete recombination die within 24 -36 hours of birth; however, 2 mutants with only partial recombination survived to adulthood

respiratory system
• presence of proteinaceous fluid in the alveoli is observed
• multifocal and acute bronchiolectasis with mild dilation of the bronchioles are seen in mutants with complete recombination
• a complete cartilage sleeve surrounds the trachea in mutants with complete recombination
• seen in mutants with complete recombination
• aerophagia with mild distension of the stomach and intestine is seen in mutants with complete recombination
• moderate and diffuse atelectasis with lack of alveolar expansion and the presence of proteinaceous fluid in the alveoli is observed

skeleton
• at E18.5 in mutants with complete recombination, markers of osteoblast differentiation are seen in cells from the edge of the bone plates into the mid-sutural area of the saggital suture where preosteoblasts are not normally found
• at E18.5 in mutants with complete recombination no differentiating osteoblasts are found between the osteogenic fronts unlike in wild-type mice
• increased cartilage is found on the basicranium at birth in mutants with complete recombination
• structures of the basicranium are about 30-40% smaller in mutants with only partial recombination at 10 months of age
• in mutants with only partial recombination at 10 months of age multiple interfrontal suture defects are seen and the fronto-premaxillary, premaxillary-maxillary, and nasal-frontal sutures are obliterated
• at P1 in mutants with complete recombination synostosis with osteoid deposition is seen
• at P1 in mutants with complete recombination synostosis with osteoid deposition is seen
• at P1 in mutants with complete recombination the space between the osteogenic fronts is increased
• at E18.5 in mutants with complete recombination increased numbers of proliferating cells are seen between the osteogenic fronts and no differentiating osteoblasts are found between the osteogenic fronts unlike in wild-type mice
• at E16.5 and E18.5 in mutants with complete recombination ectopic cartilage is found along all (E16.5) or over half (E18.5) of the length of the suture
• at E18.5 in mutants with complete recombination the space between the osteogenic fronts is decreased and at P1 the osteogenic fronts are very close and osteoid is deposited between the fronts prior to synostosis
• at E18.5 and P1 in mutants with complete recombination twice as many proliferating cells are seen and some of these cells are abnormally distributed in the space between the osteogenic fronts
• at E18.5 in mutants with complete recombination, markers of osteoblast differentiation are seen in cells from the edge of the bone plates into the mid-sutural area of the saggital suture where preosteoblasts are not normally found
• skull length and height are significantly reduced in mutants with complete recombination
• in mutants with only partial recombination at 10 months of age skull width is more affected than skull length resulting in a brachycephalic skull shape
• structures of the neurocranium are about 30-40% smaller in mutants with only partial recombination at 10 months of age
• the interparietal bone is compressed superiorly at the lambdoid suture in mutants with only partial recombination at 10 months of age
• the parietal bones have an obvious superior bulge in mutants with only partial recombination at 10 months of age
• the temporal process of the zygomatic bone is fused to the zygomatic process of the temporal bone in mutants with complete recombination
• dysmorphic angular process in mutants with only partial recombination at 10 months of age
• the mandible is very small in mutants with only partial recombination at 10 months of age
• the frontal process of the maxilla has an abnormally large sinus and bowing of the medial wall and the zygomatic process is bowed more laterally in mutants with only partial recombination at 10 months of age
• seen in mutants with complete recombination
• dysmorphology of the nasal bones is seen in mutants with only partial recombination at 10 months of age
• in mutants with complete recombination, a decrease in osteoclast numbers is seen at the chondro-osseous junction in long bones
• the nasal cartilage is thickened
• a complete cartilage sleeve surrounds the trachea in mutants with complete recombination
• in mutants with complete recombination, more prominent cartilage mineralization is seen in the long bones at P1; however, limb lengths are proportional to body size and no syndactyly is seen
• in mutants with complete recombination, the hypertrophic zone of the growth plate of the long bones is subtly irregular
• seen in 6 of 9 mutants with complete recombination (J:101174)
• at P0, mice exhibit variation in the pattern and degree of coronal suture closure compared with wild-type mice (J:156940)
• mice exhibit unilateral or bilateral coronal suture synostosis unlike wild-type mice (J:156940)

growth/size
• aerophagia with mild distension of the stomach and intestine is seen in mutants with complete recombination
• at birth in mutants with complete recombination body weight is about 83% that of wild-type littermates
• in mutants with only partial recombination at 10 months of age body weight is 29% that of wild-type littermates
• in mutants with only partial recombination at 10 months of age body length is 68% that of wild-type littermates

cardiovascular system
• mild dilation of the atria is seen in mutants with complete recombination
• mild dilation of the great vessels at the base of the heart is seen in mutants with complete recombination

immune system
• in mutants with complete recombination, a decrease in osteoclast numbers is seen at the chondro-osseous junction in long bones
• diffuse lymphoid necrosis and apoptosis of variable severity is seen in mutants with complete recombination
• multifocal and acute bronchiolectasis with mild dilation of the bronchioles are seen in mutants with complete recombination

nervous system
• 4 of 10 mice exhibit severe brain asymmetry unlike in wild-type mice
• 1 of 10 mice exhibit mild brain asymmetry unlike in wild-type mice
• rostrocaudal brain length is decreased compared to in wild-type mice
• mild hydroencephaly with enlarged ventricles is present in mutants with complete recombination
• in 2 of 10 mice
• cerebral height is increased compared to in wild-type mice
• mice exhibit cerebral asymmetry to varying degrees compared with wild-type mice
• arched in 2 of 10 mice

craniofacial
• increased cartilage is found on the basicranium at birth in mutants with complete recombination
• structures of the basicranium are about 30-40% smaller in mutants with only partial recombination at 10 months of age
• in mutants with only partial recombination at 10 months of age multiple interfrontal suture defects are seen and the fronto-premaxillary, premaxillary-maxillary, and nasal-frontal sutures are obliterated
• at P1 in mutants with complete recombination synostosis with osteoid deposition is seen
• at P1 in mutants with complete recombination synostosis with osteoid deposition is seen
• at P1 in mutants with complete recombination the space between the osteogenic fronts is increased
• at E18.5 in mutants with complete recombination increased numbers of proliferating cells are seen between the osteogenic fronts and no differentiating osteoblasts are found between the osteogenic fronts unlike in wild-type mice
• at E16.5 and E18.5 in mutants with complete recombination ectopic cartilage is found along all (E16.5) or over half (E18.5) of the length of the suture
• at E18.5 in mutants with complete recombination the space between the osteogenic fronts is decreased and at P1 the osteogenic fronts are very close and osteoid is deposited between the fronts prior to synostosis
• at E18.5 and P1 in mutants with complete recombination twice as many proliferating cells are seen and some of these cells are abnormally distributed in the space between the osteogenic fronts
• at E18.5 in mutants with complete recombination, markers of osteoblast differentiation are seen in cells from the edge of the bone plates into the mid-sutural area of the saggital suture where preosteoblasts are not normally found
• skull length and height are significantly reduced in mutants with complete recombination
• in mutants with only partial recombination at 10 months of age skull width is more affected than skull length resulting in a brachycephalic skull shape
• structures of the neurocranium are about 30-40% smaller in mutants with only partial recombination at 10 months of age
• the interparietal bone is compressed superiorly at the lambdoid suture in mutants with only partial recombination at 10 months of age
• the parietal bones have an obvious superior bulge in mutants with only partial recombination at 10 months of age
• the temporal process of the zygomatic bone is fused to the zygomatic process of the temporal bone in mutants with complete recombination
• dysmorphic angular process in mutants with only partial recombination at 10 months of age
• the mandible is very small in mutants with only partial recombination at 10 months of age
• the frontal process of the maxilla has an abnormally large sinus and bowing of the medial wall and the zygomatic process is bowed more laterally in mutants with only partial recombination at 10 months of age
• seen in mutants with complete recombination
• dysmorphology of the nasal bones is seen in mutants with only partial recombination at 10 months of age
• in mutants with only partial recombination at 10 months of age head shape is abnormal
• structures of the face are about 40-50% smaller in mutants with only partial recombination at 10 months of age
• malformations of the palate are seen in all mutants

hematopoietic system
• in mutants with complete recombination, a decrease in osteoclast numbers is seen at the chondro-osseous junction in long bones
• diffuse lymphoid necrosis and apoptosis of variable severity is seen in mutants with complete recombination

digestive/alimentary system
• malformations of the palate are seen in all mutants
• aerophagia with mild distension of the stomach and intestine is seen in mutants with complete recombination

muscle
• mild dilation of the great vessels at the base of the heart is seen in mutants with complete recombination

homeostasis/metabolism
• presence of proteinaceous fluid in the alveoli is observed

cellular
• at E18.5 in mutants with complete recombination, markers of osteoblast differentiation are seen in cells from the edge of the bone plates into the mid-sutural area of the saggital suture where preosteoblasts are not normally found
• at E18.5 in mutants with complete recombination no differentiating osteoblasts are found between the osteogenic fronts unlike in wild-type mice

Mouse Models of Human Disease
OMIM IDRef(s)
Apert Syndrome 101200 J:101174 , J:156940


Mouse Genome Informatics
cn18
    Gbatm1Clk/Gbatm1.1Clk
Tg(EIIa-cre)C5379Lmgd/0

involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
• tissue glucocerebrosidase activity is reduced to ~30% of control levels except in spleen (38%) and peripheral white cells (45%)


Mouse Genome Informatics
cn19
    Pigatm1Bsl/Piga+
Tg(EIIa-cre)C5379Lmgd/0

involves: 129S1/Sv * FVB/NJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• increased perinatal lethality (J:75506)

hematopoietic system
• high level of blood cells lacking glycosylphosphatidylinositol anchors (J:75506)
• level of RBC lacking glycosylphosphatidylinositol anchors highest at birth (up to 53%) and declining over 4 weeks to around 4% (J:75506)
• elevated numbers of reticulocytes (J:75506)
• RBC half life only 50% of normal (J:75506)
• increased susceptibility to lytic activity of activated complement (J:75506)

craniofacial
• orofacial abnormalities when cre recombination levels are highest (J:56055)
• when cre recombination levels are highest (J:56055)

behavior/neurological
• unable to suckle when cre recombination levels are highest (J:56055)

digestive/alimentary system
• when cre recombination levels are highest (J:56055)


Mouse Genome Informatics
cn20
    Tg(EIIa-cre)C5379Lmgd/0
Tg(Rnu6-RNAi:Bccip)4Zshn/0
Trp53tm1Tyj/Trp53tm1Tyj

involves: 129S2/SvPas * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• Trp53 deficiency does not result in significant rescue of the embryonic lethality seen in Bccip deficiency; ratio of viable double transgenic to wild-type offspring is not increased in the Trp53-null or heterozygous background


Mouse Genome Informatics
cn21
    Drd1atm2Jcd/Drd1a+
Tg(EIIa-cre)C5379Lmgd/0

involves: 129S4/SvJae * BALB/c * CD-1 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• at P2 mice have a small or absent milk spot and most die during the first postnatal week with some surviving to P19

nervous system
• some distortion in the normal relationship of the forebrain and hippocampus
• islands of Calleja are absent
• forebrain is smaller and volumetrically reduced by about 40% in the striatum with no change in cortical thickness
• hypercellular stratum with frequent condensed nuclear bodies
• mice have an increase apoptotic striatum cells
• some distortion in the normal relationship of the forebrain and hippocampus
• hippocampus is displayed anteriorly
• increase in reactive gliosis in the lateral stratum and along the corpus callosum
• neuropeptides substance P and dynorphin are absent
• falls are more myoclonic jerks than ataxia and are sometimes locomotor-activated
• at less than P6, all mice exhibit myoclonic jerks compared to 2 of 11 normal mice

behavior/neurological
• mice fail to right after spontaneous falls
• frequent falls at P2 some due to dystonia while other falls are erratic, violent, intrusive and associated with attempted movement or tactile stimulation
• falls are more myoclonic jerks than ataxia
• mice have an abnormal posture when at rest
• mice display peripheral dystonia that contributes to some falls
• falls are more myoclonic jerks than ataxia and are sometimes locomotor-activated
• at less than P6, all mice exhibit myoclonic jerks compared to 2 of 11 normal mice

muscle
• mice display peripheral dystonia that contributes to some falls
• falls are more myoclonic jerks than ataxia and are sometimes locomotor-activated
• at less than P6, all mice exhibit myoclonic jerks compared to 2 of 11 normal mice

respiratory system
• at P2 mice exhibit periodic breathing that is resolved in older pups


Mouse Genome Informatics
cn22
    Porcntm1.1Vdv/Porcn+
Tg(EIIa-cre)C5379Lmgd/0

involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6J * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• out of 13 litters only 3 males were recovered and these had a low level of mosaicism (J:186934)

integument
• decreased hair growth in survivors (J:186934)

Mouse Models of Human Disease
OMIM IDRef(s)
Focal Dermal Hypoplasia; FDH 305600 J:186934


Mouse Genome Informatics
cn23
    Porcntm1.1Vdv/Y
Tg(EIIa-cre)C5379Lmgd/0

involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6J * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• out of 13 litters only 3 males were recovered and these had a low level of mosaicism (J:186934)

integument
• decreased hair growth in survivors (J:186934)

Mouse Models of Human Disease
OMIM IDRef(s)
Focal Dermal Hypoplasia; FDH 305600 J:186934


Mouse Genome Informatics
cn24
    Ctgftm2Mae/Ctgf+
Tg(EIIa-cre)C5379Lmgd/?

involves: 129S6/SvEvTac
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• Background Sensitivity: no heterozygous embryos after E12.5

embryogenesis
• pharyngeal arches remain open
• small and embryonic development is delayed at E10.5

cardiovascular system
• less visible vasculature

craniofacial
• pharyngeal arches remain open
• shortened face in mice surviving to adulthood (4/81)
• in mice surviving to adulthood (4/81)

limbs/digits/tail
• in mice surviving to adulthood (4/81)
• in mice surviving to adulthood (4/81)

skeleton
• smaller bone area in mice surviving to adulthood (4/81)
• in mice surviving to adulthood (4/81)

growth/size
• small and embryonic development is delayed at E10.5
• in mice surviving to adulthood (4/81)

hearing/vestibular/ear
• in mice surviving to adulthood (4/81)


Mouse Genome Informatics
cn25
    Cbfbtm1Lhc/Cbfb+
Tg(EIIa-cre)C5379Lmgd/0

involves: 129S6/SvEvTac * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• embryos die by midgestation

hematopoietic system
• embryos display hematopoeitic deficiency


Mouse Genome Informatics
cn26
    Ctgftm2Mae/Ctgf+
Tg(EIIa-cre)C5379Lmgd/?

involves: 129S6/SvEvTac * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• Background Sensitivity: no heterozygous embryos after E14.5

embryogenesis
• small and embryonic development is delayed

cardiovascular system
• poor vascularization at E13.5-14.5

vision/eye
• eye is less developed at E13.5-14.5

craniofacial
• shortened face in mice surviving to adulthood (4/81)
• at E13.5-14.5
• at E13.5-14.5
• in mice surviving to adulthood (4/81)

limbs/digits/tail
• in mice surviving to adulthood (4/81)
• in mice surviving to adulthood (4/81)

skeleton
• smaller bone area in mice surviving to adulthood (4/81)
• in mice surviving to adulthood (4/81)

growth/size
• small and embryonic development is delayed
• in mice surviving to adulthood (4/81)

hearing/vestibular/ear
• in mice surviving to adulthood (4/81)


Mouse Genome Informatics
cn27
    Zfhx3tm1.1Jtd/Zfhx3+
Tg(EIIa-cre)C5379Lmgd/0

involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• half of mice die by weaning


Mouse Genome Informatics
cn28
    Egfrtm1Dwt/Egfrtm1Dwt
Tg(EIIa-cre)C5379Lmgd/0

involves: 129S6/SvEvTac * C57BL/6J * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Placenta abnormalities in Egfrtm1Dwt/Egfrtm1Dwt Tg(EIIa-cre)C5379Lmgd/0 mice

embryogenesis
• at mid-gestation
• mice exhibit similar defects to those observed in Egfrtm1Mag homozygotes
• the numbers of trophoblasts and glycogen cells in the spongiotrophoblast is moderately to severely reduced compared to in wild-type mice
• mice exhibit similar defects to those observed in Egfrtm1Mag homozygotes
• the labyrinth is reduced in size and disorganized compared to in wild-type mice

growth/size
• at mid-gestation


Mouse Genome Informatics
cn29
    Fgfr2tm2Cxd/Fgfr2+
Tg(EIIa-cre)C5379Lmgd/0

involves: 129S6/SvEvTac * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• mutants with severe cranial abnormalities die within 20 days of birth, less severely affected mutants survive to adulthood

growth/size
• severely affected mutants are very small compared to wild-type mice, less severely affected mutants are 70-80% of the size of wild-type littermates

skeleton
• some adults have asymmetrical skulls; however no obvious hand/foot abnormalities are seen
• at P1 and P8 increased apoptosis is seen with the highest levels seen in the parietal and frontal bones; however no significant difference in osteoblast proliferation (at E16.5, E18.5, P1, P5, and P8) or differentiation (at E18.5, P1, and P18) is seen in the sutures
• premature closure of the coronal suture is first seen around E18.5 with more significant overlap between the osteogenic fronts developing over time and fewer mesenchymal cells are found in the coronal suture at birth
• development of the sagittal suture is slightly delayed
• significant shortening of the anterior-posterior axis
• calvarial bone formation is decreased
• the frontal bone is thinner and at P1 and P8 increased apoptosis is seen
• the parietal bone is thinner and at P1 and P8 increased apoptosis is seen
• the presphenoid bone is significantly shorter
• after P10 some mutants have slightly shorter columns of proliferating chondrocytes
• craniosynostosis is most pronounced in the coronal suture

vision/eye

reproductive system
• all surviving females are sterile (J:101385)
• only 1 male generated 2 litters when mated with a wild-type female (J:101385)

craniofacial
• cranial abnormalities vary in severity and the severely affected mutants die postnatally
• some adults have asymmetrical skulls; however no obvious hand/foot abnormalities are seen
• at P1 and P8 increased apoptosis is seen with the highest levels seen in the parietal and frontal bones; however no significant difference in osteoblast proliferation (at E16.5, E18.5, P1, P5, and P8) or differentiation (at E18.5, P1, and P18) is seen in the sutures
• premature closure of the coronal suture is first seen around E18.5 with more significant overlap between the osteogenic fronts developing over time and fewer mesenchymal cells are found in the coronal suture at birth
• development of the sagittal suture is slightly delayed
• significant shortening of the anterior-posterior axis
• calvarial bone formation is decreased
• the frontal bone is thinner and at P1 and P8 increased apoptosis is seen
• the parietal bone is thinner and at P1 and P8 increased apoptosis is seen
• the presphenoid bone is significantly shorter
• midface hypoplasia

embryogenesis
• severely affected mutants are very small compared to wild-type mice, less severely affected mutants are 70-80% of the size of wild-type littermates

Mouse Models of Human Disease
OMIM IDRef(s)
Apert Syndrome 101200 J:101385


Mouse Genome Informatics
cn30
    Erbb3tm1Squ/Erbb3tm1Squ
Tg(EIIa-cre)C5379Lmgd/0

involves: 129S6/SvEvTac * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• normal numbers of homozygous embryos are found at E12.5 but number of viable embryos is severely reduced at E13.5

nervous system
• there is a lack of Schwann cells and Schwann cell precursors in DRGs
• there is a lack of Schwann cells and Schwann cell precursors in DRGs

cardiovascular system
• mutants exhibit defects in the atrioventricular valves


Mouse Genome Informatics
cn31
    Ptpn11tm1Toa/Ptpn11+
Tg(EIIa-cre)C5379Lmgd/0

involves: 129S6/SvEvTac * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• no viable recombinants are found


Mouse Genome Informatics
cn32
    Arhgap6/Hccs/Mid1tm1Hzo/Arhgap6/Hccs/Mid1tm1Hzo
Tg(EIIa-cre)C5379Lmgd/?

involves: 129S7/SvEvBrd * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• 15 of 21 embryos abnormal at E9.5 and E10.5 (J:80528)
• mosaic animals were present and were healthy and fertile (J:80528)
• no homozygous mice born (J:80528)

embryogenesis
• many embryos undergoing resorption by E9.5-E10.5 (J:80528)
• gastrulation defects (J:80528)

growth/size

Mouse Models of Human Disease
OMIM IDRef(s)
Microphthalmia, Syndromic 7; MCOPS7 309801 J:80528


Mouse Genome Informatics
cn33
    Arhgap6/Hccs/Mid1tm1Hzo/Y
Tg(EIIa-cre)C5379Lmgd/?

involves: 129S7/SvEvBrd * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• no hemizygous mice born (J:80528)
• 15 of 21 embryos abnormal at E9.5 and E10.5 (J:80528)
• mosaic animals were present and were healthy and fertile (J:80528)

embryogenesis
• many embryos undergoing resorption by E9.5-E10.5 (J:80528)
• gastrulation defects (J:80528)

growth/size

Mouse Models of Human Disease
OMIM IDRef(s)
Microphthalmia, Syndromic 7; MCOPS7 309801 J:80528


Mouse Genome Informatics
cn34
    Arhgap6/Hccs/Mid1tm1Hzo/Arhgap6/Hccs/Mid1tm1Hzo
Tg(EIIa-cre)C5379Lmgd/?

involves: 129S7/SvEvBrd * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• 15 of 21 embryos abnormal at E9.5 and E10.5 (J:80528)
• mosaic animals were present and were healthy and fertile (J:80528)
• no homozygous mice born (J:80528)

embryogenesis
• many embryos undergoing resorption by E9.5-E10.5 (J:80528)
• gastrulation defects (J:80528)

growth/size

Mouse Models of Human Disease
OMIM IDRef(s)
Microphthalmia, Syndromic 7; MCOPS7 309801 J:80528


Mouse Genome Informatics
cn35
    Arhgap6/Hccs/Mid1tm1Hzo/Y
Tg(EIIa-cre)C5379Lmgd/?

involves: 129S7/SvEvBrd * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• no hemizygous mice born (J:80528)
• 15 of 21 embryos abnormal at E9.5 and E10.5 (J:80528)
• mosaic animals were present and were healthy and fertile (J:80528)

embryogenesis
• many embryos undergoing resorption by E9.5-E10.5 (J:80528)
• gastrulation defects (J:80528)

growth/size

Mouse Models of Human Disease
OMIM IDRef(s)
Microphthalmia, Syndromic 7; MCOPS7 309801 J:80528


Mouse Genome Informatics
cn36
    Arhgap6/Hccs/Mid1tm1Hzo/Arhgap6/Hccs/Mid1tm1Hzo
Tg(EIIa-cre)C5379Lmgd/?

involves: 129S7/SvEvBrd * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• 15 of 21 embryos abnormal at E9.5 and E10.5 (J:80528)
• mosaic animals were present and were healthy and fertile (J:80528)
• no homozygous mice born (J:80528)

embryogenesis
• many embryos undergoing resorption by E9.5-E10.5 (J:80528)
• gastrulation defects (J:80528)

growth/size

Mouse Models of Human Disease
OMIM IDRef(s)
Microphthalmia, Syndromic 7; MCOPS7 309801 J:80528


Mouse Genome Informatics
cn37
    Arhgap6/Hccs/Mid1tm1Hzo/Y
Tg(EIIa-cre)C5379Lmgd/?

involves: 129S7/SvEvBrd * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• no hemizygous mice born (J:80528)
• 15 of 21 embryos abnormal at E9.5 and E10.5 (J:80528)
• mosaic animals were present and were healthy and fertile (J:80528)

embryogenesis
• many embryos undergoing resorption by E9.5-E10.5 (J:80528)
• gastrulation defects (J:80528)

growth/size

Mouse Models of Human Disease
OMIM IDRef(s)
Microphthalmia, Syndromic 7; MCOPS7 309801 J:80528


Mouse Genome Informatics
cn38
    Arhgap6/Hccs/Mid1tm1Hzo/Mid1+
Tg(EIIa-cre)C5379Lmgd/?

involves: 129S7/SvEvBrd * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• no heterozygotes born (J:80528)

Mouse Models of Human Disease
OMIM IDRef(s)
Microphthalmia, Syndromic 7; MCOPS7 309801 J:80528


Mouse Genome Informatics
cn39
    Arhgap6/Hccs/Mid1tm1Hzo/Hccs+
Tg(EIIa-cre)C5379Lmgd/?

involves: 129S7/SvEvBrd * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• no heterozygotes born (J:80528)

Mouse Models of Human Disease
OMIM IDRef(s)
Microphthalmia, Syndromic 7; MCOPS7 309801 J:80528


Mouse Genome Informatics
cn40
    Arhgap6/Hccs/Mid1tm1Hzo/Arhgap6+
Tg(EIIa-cre)C5379Lmgd/?

involves: 129S7/SvEvBrd * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• no heterozygotes born (J:80528)

Mouse Models of Human Disease
OMIM IDRef(s)
Microphthalmia, Syndromic 7; MCOPS7 309801 J:80528


Mouse Genome Informatics
cn41
    Inhbatm1Zuk/Inhbatm3Zuk
Tg(EIIa-cre)C5379Lmgd/?

involves: 129S7/SvEvBrd * C57BL/6J * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• mice die shortly after birth similar to Inhbatm1Zuk homozygotes


Mouse Genome Informatics
cn42
    Epotm1Knni/Epotm1Knni
Tg(EIIa-cre)C5379Lmgd/0

involves: C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• embryos died at 12.5 days post-coitum with severe defects in erythropoiesis

hematopoietic system
• significant reduction in RBCs in the liver


Mouse Genome Informatics
cn43
    Tg(EIIa-cre)C5379Lmgd/0
Tg(Rnu6-RNAi:Bccip)4Zshn/0

involves: C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• lethality occurs before E11.5

growth/size
• significant delay and abnormal development is observed at E6.5, evidenced by abnormal mass of embryonic tissues relative to controls
• embryos at E7.5 and E8.5 show significant developmental retardation

embryogenesis
• growth of the inner cell mass is impaired in cultured mutant blastocysts compared to wild-type starting at culture day 3 (equivalent to E6.5 in vivo)
• no mesoderm differentiation is apparent at E7.5
• development of the neural plate is not evident at E8.5
• development of the notochord is not evident at E8.5
• amniotic cavity does not develop
• developmental arrest is observed at E11.5
• significant delay and abnormal development is observed at E6.5, evidenced by abnormal mass of embryonic tissues relative to controls
• embryos at E7.5 and E8.5 show significant developmental retardation

cellular
• elevated apoptosis is observed by E7.5 in mutant embryos, but at E6.5 there is little difference compared to controls
• growth of the inner cell mass is impaired in cultured mutant blastocysts compared to wild-type starting at culture day 3 (equivalent to E6.5 in vivo)
• the proliferation index of cells in embryonic tissues is slightly reduced at E6.5 relative to controls and reduction is significant by E7.5

nervous system
• development of the neural plate is not evident at E8.5

reproductive system
• litters are significantly smaller (5.1 pups/litter) than wild-type controls (10.3/litter)
• the number of double-positive transgenic offspring is greatly reduced, but some are viable; however, some of these animals were shown to have lost the RNAi cassette spontaneously


Mouse Genome Informatics
cn44
    Fbxw7tm2Iaai/Fbxw7+
Tg(EIIa-cre)C5379Lmgd/0

involves: C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
embryogenesis
N
• mice do not develop developmental defects (J:200006)

tumorigenesis
N
• mice do not develop tumors (J:200006)


Mouse Genome Informatics
cn45
    Gna13tm2.2Soff/Gna13tm2.2Soff
Tg(EIIa-cre)C5379Lmgd/?

involves: FVB
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
• defects are indistinguishable from those in Gna12tm1Citb Gna13tm2.1Soff double homozygotes
• defects are indistinguishable from those in Gna12tm1Citb Gna13tm2.1Soff double homozygotes
• defects are indistinguishable from those in Gna12tm1Citb Gna13tm2.1Soff double homozygotes

hematopoietic system
• defects are indistinguishable from those in Gna12tm1Citb Gna13tm2.1Soff double homozygotes


Mouse Genome Informatics
cn46
    Pawrtm1Yshi/Pawrtm1Yshi
Tg(EIIa-cre)C5379Lmgd/?

involves: FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
normal phenotype
• mice are normal


Mouse Genome Informatics
cn47
    Becn1tm1Ebr/Becn1+
Tg(EIIa-cre)C5379Lmgd/?

involves: FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• high level of death associated with heart and brain defects at embryonic days 11.5 and 12.5

cardiovascular system
• high level of death associated with heart defects at embryonic days 11.5 and 12.5

nervous system
• high level of death associated with brain defects at embryonic days 11.5 and 12.5


Mouse Genome Informatics
cx48
    Scnm1tm1.1Mm/Scnm1tm1.1Mm
Tg(EIIa-cre)C5379Lmgd/0

involves: C57BL/6 * C57BL/6J * FVB * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size
• mice weigh 50% of wild-type